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Items: 1 to 20 of 1538

1.

rs1490252049 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    8:103766413 (GRCh38)
    8:104778641 (GRCh37)
    Canonical SPDI:
    NC_000008.11:103766412:C:T
    Gene:
    RIMS2 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.103766413C>T, NC_000008.10:g.104778641C>T, NG_053027.1:g.271388C>T, NM_001100117.3:c.574C>T, NM_001100117.2:c.574C>T, NM_001348484.3:c.706C>T, NM_001348484.2:c.706C>T, NM_001348484.1:c.706C>T, NM_001348489.2:c.574C>T, NM_001348489.1:c.574C>T, NM_001348490.2:c.586C>T, NM_001348490.1:c.586C>T, NR_145710.2:n.983C>T, NR_145710.1:n.845C>T, NM_001348491.2:c.694C>T, NM_001348491.1:c.694C>T, NM_001348486.2:c.586C>T, NM_001348486.1:c.586C>T, NM_001348494.2:c.574C>T, NM_001348494.1:c.574C>T, NM_001348488.2:c.706C>T, NM_001348488.1:c.706C>T, NM_001348487.2:c.586C>T, NM_001348487.1:c.586C>T, NM_001348495.2:c.574C>T, NM_001348495.1:c.574C>T, NM_001348492.2:c.586C>T, NM_001348492.1:c.586C>T, NM_001348496.2:c.586C>T, NM_001348496.1:c.586C>T, NM_001348493.2:c.574C>T, NM_001348493.1:c.574C>T, NM_001348497.2:c.574C>T, NM_001348497.1:c.574C>T, NM_001348485.2:c.574C>T, NM_001348485.1:c.574C>T, NM_001395654.1:c.706C>T, NM_001395652.1:c.586C>T, NM_001395653.1:c.706C>T, XM_011517395.4:c.706C>T, XM_011517395.3:c.706C>T, XM_011517395.2:c.706C>T, XM_011517395.1:c.706C>T, XM_005251106.4:c.574C>T, XM_005251106.3:c.574C>T, XM_005251106.2:c.574C>T, XM_005251106.1:c.574C>T, XM_005251107.4:c.574C>T, XM_005251107.3:c.574C>T, XM_005251107.2:c.574C>T, XM_005251107.1:c.574C>T, XM_017014006.3:c.706C>T, XM_017014006.2:c.706C>T, XM_017014006.1:c.706C>T, XM_017014008.3:c.706C>T, XM_017014008.2:c.706C>T, XM_017014008.1:c.706C>T, XM_017014009.3:c.706C>T, XM_017014009.2:c.706C>T, XM_017014009.1:c.706C>T, XM_017014010.3:c.706C>T, XM_017014010.2:c.706C>T, XM_017014010.1:c.706C>T, XM_017014011.3:c.706C>T, XM_017014011.2:c.706C>T, XM_017014011.1:c.706C>T, XM_017014012.3:c.706C>T, XM_017014012.2:c.706C>T, XM_017014012.1:c.706C>T, XM_017014015.3:c.706C>T, XM_017014015.2:c.706C>T, XM_017014015.1:c.706C>T, XM_017014016.3:c.706C>T, XM_017014016.2:c.706C>T, XM_017014016.1:c.706C>T, XM_017014014.2:c.574C>T, XM_017014014.1:c.574C>T, XM_047422468.1:c.706C>T, XM_047422469.1:c.706C>T, XM_047422470.1:c.574C>T, XM_047422471.1:c.574C>T, XM_047422472.1:c.574C>T, XM_047422473.1:c.706C>T, XM_047422474.1:c.574C>T, XM_047422475.1:c.574C>T, XM_047422476.1:c.574C>T, XM_047422477.1:c.574C>T, XM_047422478.1:c.574C>T, XM_047422479.1:c.574C>T, XM_047422480.1:c.574C>T, XM_047422481.1:c.574C>T, XM_047422482.1:c.574C>T, XM_047422483.1:c.574C>T, NP_001093587.1:p.Pro192Ser, NP_001335413.1:p.Pro236Ser, NP_001335418.1:p.Pro192Ser, NP_001335419.1:p.Pro196Ser, NP_001335420.1:p.Pro232Ser, NP_001335415.1:p.Pro196Ser, NP_001335423.1:p.Pro192Ser, NP_001335417.1:p.Pro236Ser, NP_001335416.1:p.Pro196Ser, NP_001335424.1:p.Pro192Ser, NP_001335421.1:p.Pro196Ser, NP_001335425.1:p.Pro196Ser, NP_001335422.1:p.Pro192Ser, NP_001335426.1:p.Pro192Ser, NP_001335414.1:p.Pro192Ser, NP_001382583.1:p.Pro236Ser, NP_001382581.1:p.Pro196Ser, NP_001382582.1:p.Pro236Ser, XP_011515697.1:p.Pro236Ser, XP_005251163.1:p.Pro192Ser, XP_005251164.1:p.Pro192Ser, XP_016869495.1:p.Pro236Ser, XP_016869497.1:p.Pro236Ser, XP_016869498.1:p.Pro236Ser, XP_016869499.1:p.Pro236Ser, XP_016869500.1:p.Pro236Ser, XP_016869501.1:p.Pro236Ser, XP_016869504.1:p.Pro236Ser, XP_016869505.1:p.Pro236Ser, XP_016869503.1:p.Pro192Ser, XP_047278424.1:p.Pro236Ser, XP_047278425.1:p.Pro236Ser, XP_047278426.1:p.Pro192Ser, XP_047278427.1:p.Pro192Ser, XP_047278428.1:p.Pro192Ser, XP_047278429.1:p.Pro236Ser, XP_047278430.1:p.Pro192Ser, XP_047278431.1:p.Pro192Ser, XP_047278432.1:p.Pro192Ser, XP_047278433.1:p.Pro192Ser, XP_047278434.1:p.Pro192Ser, XP_047278435.1:p.Pro192Ser, XP_047278436.1:p.Pro192Ser, XP_047278437.1:p.Pro192Ser, XP_047278438.1:p.Pro192Ser, XP_047278439.1:p.Pro192Ser

    2.

    rs1489860079 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:104094496 (GRCh38)
      8:105106724 (GRCh37)
      Canonical SPDI:
      NC_000008.11:104094495:G:A
      Gene:
      RIMS2 (Varview), LOC105375688 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000008/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.104094496G>A, NC_000008.10:g.105106724G>A, NG_053027.1:g.599471G>A, XM_011517395.4:c.3942G>A, XM_011517395.3:c.3942G>A, XM_011517395.2:c.3942G>A, XM_011517395.1:c.3942G>A, XM_017014006.3:c.3927G>A, XM_017014006.2:c.3927G>A, XM_017014006.1:c.3927G>A, XM_017014008.3:c.3828G>A, XM_017014008.2:c.3828G>A, XM_017014008.1:c.3828G>A, XM_017014010.3:c.3687G>A, XM_017014010.2:c.3687G>A, XM_017014010.1:c.3687G>A, XM_017014014.2:c.3579G>A, XM_017014014.1:c.3579G>A, XM_017014022.2:c.3243G>A, XM_017014022.1:c.3243G>A, XM_047422468.1:c.3894G>A, XM_047422469.1:c.3852G>A, XM_047422470.1:c.3810G>A, XM_047422471.1:c.3795G>A, XM_047422472.1:c.3762G>A, XM_047422473.1:c.3753G>A, XM_047422474.1:c.3720G>A, XM_047422475.1:c.3669G>A, XM_047422476.1:c.3654G>A, XM_047422477.1:c.3621G>A, XM_047422478.1:c.3588G>A, XM_047422479.1:c.3582G>A

      3.

      rs1489809300 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        8:103885775 (GRCh38)
        8:104898003 (GRCh37)
        Canonical SPDI:
        NC_000008.11:103885774:A:T
        Gene:
        RIMS2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.103885775A>T, NC_000008.10:g.104898003A>T, NG_053027.1:g.390750A>T, NM_014677.5:c.600A>T, NM_014677.4:c.600A>T, NM_001100117.3:c.1176A>T, NM_001100117.2:c.1176A>T, NM_001348484.3:c.1308A>T, NM_001348484.2:c.1308A>T, NM_001348484.1:c.1308A>T, NM_001348489.2:c.1176A>T, NM_001348489.1:c.1176A>T, NM_001348490.2:c.1188A>T, NM_001348490.1:c.1188A>T, NR_145710.2:n.1585A>T, NR_145710.1:n.1447A>T, NM_001348491.2:c.1296A>T, NM_001348491.1:c.1296A>T, NM_001348486.2:c.1188A>T, NM_001348486.1:c.1188A>T, NM_001348494.2:c.1176A>T, NM_001348494.1:c.1176A>T, NM_001348488.2:c.1308A>T, NM_001348488.1:c.1308A>T, NM_001348509.2:c.600A>T, NM_001348509.1:c.600A>T, NM_001348487.2:c.1188A>T, NM_001348487.1:c.1188A>T, NM_001348495.2:c.1218A>T, NM_001348495.1:c.1218A>T, NM_001348492.2:c.1188A>T, NM_001348492.1:c.1188A>T, NM_001348496.2:c.1188A>T, NM_001348496.1:c.1188A>T, NM_001348493.2:c.1176A>T, NM_001348493.1:c.1176A>T, NM_001348497.2:c.1176A>T, NM_001348497.1:c.1176A>T, NM_001348503.2:c.600A>T, NM_001348503.1:c.600A>T, NM_001348498.2:c.600A>T, NM_001348498.1:c.600A>T, NM_001348501.2:c.600A>T, NM_001348501.1:c.600A>T, NM_001348485.2:c.1176A>T, NM_001348485.1:c.1176A>T, NM_001348505.2:c.600A>T, NM_001348505.1:c.600A>T, NM_001282881.2:c.600A>T, NM_001282881.1:c.600A>T, NM_001348499.2:c.600A>T, NM_001348499.1:c.600A>T, NM_001348507.2:c.600A>T, NM_001348507.1:c.600A>T, NM_001348508.2:c.600A>T, NM_001348508.1:c.600A>T, NM_001348506.2:c.600A>T, NM_001348506.1:c.600A>T, NR_145711.2:n.888A>T, NR_145711.1:n.920A>T, NM_001348504.2:c.600A>T, NM_001348504.1:c.600A>T, NM_001348500.2:c.600A>T, NM_001348500.1:c.600A>T, NM_001348502.2:c.600A>T, NM_001348502.1:c.600A>T, NM_001395654.1:c.1308A>T, NM_001395652.1:c.1188A>T, NM_001395653.1:c.1308A>T, XM_011517395.4:c.1350A>T, XM_011517395.3:c.1350A>T, XM_011517395.2:c.1350A>T, XM_011517395.1:c.1350A>T, XM_005251106.4:c.1176A>T, XM_005251106.3:c.1176A>T, XM_005251106.2:c.1176A>T, XM_005251106.1:c.1176A>T, XM_005251107.4:c.1176A>T, XM_005251107.3:c.1176A>T, XM_005251107.2:c.1176A>T, XM_005251107.1:c.1176A>T, XM_017014006.3:c.1350A>T, XM_017014006.2:c.1350A>T, XM_017014006.1:c.1350A>T, XM_017014008.3:c.1350A>T, XM_017014008.2:c.1350A>T, XM_017014008.1:c.1350A>T, XM_017014009.3:c.1350A>T, XM_017014009.2:c.1350A>T, XM_017014009.1:c.1350A>T, XM_017014010.3:c.1350A>T, XM_017014010.2:c.1350A>T, XM_017014010.1:c.1350A>T, XM_017014011.3:c.1350A>T, XM_017014011.2:c.1350A>T, XM_017014011.1:c.1350A>T, XM_017014012.3:c.1350A>T, XM_017014012.2:c.1350A>T, XM_017014012.1:c.1350A>T, XM_017014015.3:c.1350A>T, XM_017014015.2:c.1350A>T, XM_017014015.1:c.1350A>T, XM_017014016.3:c.1350A>T, XM_017014016.2:c.1350A>T, XM_017014016.1:c.1350A>T, XM_017014014.2:c.1176A>T, XM_017014014.1:c.1176A>T, XM_017014022.2:c.600A>T, XM_017014022.1:c.600A>T, XM_017014036.2:c.600A>T, XM_017014036.1:c.600A>T, XM_047422468.1:c.1350A>T, XM_047422469.1:c.1308A>T, XM_047422470.1:c.1218A>T, XM_047422471.1:c.1218A>T, XM_047422472.1:c.1218A>T, XM_047422473.1:c.1350A>T, XM_047422474.1:c.1176A>T, XM_047422475.1:c.1218A>T, XM_047422476.1:c.1218A>T, XM_047422477.1:c.1218A>T, XM_047422478.1:c.1176A>T, XM_047422479.1:c.1218A>T, XM_047422480.1:c.1218A>T, XM_047422481.1:c.1218A>T, XM_047422482.1:c.1176A>T, XM_047422483.1:c.1176A>T

        4.

        rs1489039666 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          8:104094485 (GRCh38)
          8:105106714 (GRCh37)
          Canonical SPDI:
          NC_000008.11:104094485::A
          Gene:
          RIMS2 (Varview), LOC105375688 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000026/7 (TOPMED)
          HGVS:
          NC_000008.11:g.104094485_104094486insA, NC_000008.10:g.105106713_105106714insA, NG_053027.1:g.599460_599461insA, XM_011517395.4:c.3931_3932insA, XM_011517395.3:c.3931_3932insA, XM_011517395.2:c.3931_3932insA, XM_011517395.1:c.3931_3932insA, XM_017014006.3:c.3916_3917insA, XM_017014006.2:c.3916_3917insA, XM_017014006.1:c.3916_3917insA, XM_017014008.3:c.3817_3818insA, XM_017014008.2:c.3817_3818insA, XM_017014008.1:c.3817_3818insA, XM_017014010.3:c.3676_3677insA, XM_017014010.2:c.3676_3677insA, XM_017014010.1:c.3676_3677insA, XM_017014014.2:c.3568_3569insA, XM_017014014.1:c.3568_3569insA, XM_017014022.2:c.3232_3233insA, XM_017014022.1:c.3232_3233insA, XM_047422468.1:c.3883_3884insA, XM_047422469.1:c.3841_3842insA, XM_047422470.1:c.3799_3800insA, XM_047422471.1:c.3784_3785insA, XM_047422472.1:c.3751_3752insA, XM_047422473.1:c.3742_3743insA, XM_047422474.1:c.3709_3710insA, XM_047422475.1:c.3658_3659insA, XM_047422476.1:c.3643_3644insA, XM_047422477.1:c.3610_3611insA, XM_047422478.1:c.3577_3578insA, XM_047422479.1:c.3571_3572insA, XP_011515697.1:p.Gly1311fs, XP_016869495.1:p.Gly1306fs, XP_016869497.1:p.Gly1273fs, XP_016869499.1:p.Gly1226fs, XP_016869503.1:p.Gly1190fs, XP_016869511.1:p.Gly1078fs, XP_047278424.1:p.Gly1295fs, XP_047278425.1:p.Gly1281fs, XP_047278426.1:p.Gly1267fs, XP_047278427.1:p.Gly1262fs, XP_047278428.1:p.Gly1251fs, XP_047278429.1:p.Gly1248fs, XP_047278430.1:p.Gly1237fs, XP_047278431.1:p.Gly1220fs, XP_047278432.1:p.Gly1215fs, XP_047278433.1:p.Gly1204fs, XP_047278434.1:p.Gly1193fs, XP_047278435.1:p.Gly1191fs

          5.

          rs1487314785 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:104068610 (GRCh38)
            8:105080838 (GRCh37)
            Canonical SPDI:
            NC_000008.11:104068609:A:G
            Gene:
            RIMS2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000008.11:g.104068610A>G, NC_000008.10:g.105080838A>G, NG_053027.1:g.573585A>G, NM_001348484.3:c.3691A>G, NM_001348484.2:c.3691A>G, NM_001348484.1:c.3691A>G, NM_001348489.2:c.3517A>G, NM_001348489.1:c.3517A>G, NM_001348490.2:c.3430A>G, NM_001348490.1:c.3430A>G, NM_001348509.2:c.2938A>G, NM_001348509.1:c.2938A>G, NM_001348503.2:c.2842A>G, NM_001348503.1:c.2842A>G, NM_001348498.2:c.2842A>G, NM_001348498.1:c.2842A>G, NM_001348501.2:c.2695A>G, NM_001348501.1:c.2695A>G, NR_145711.2:n.2950A>G, NR_145711.1:n.2982A>G, NM_001395654.1:c.3550A>G, NM_001395652.1:c.3544A>G, NM_001395653.1:c.3403A>G, XM_011517395.4:c.3748A>G, XM_011517395.3:c.3748A>G, XM_011517395.2:c.3748A>G, XM_011517395.1:c.3748A>G, XM_005251106.4:c.3592A>G, XM_005251106.3:c.3592A>G, XM_005251106.2:c.3592A>G, XM_005251106.1:c.3592A>G, XM_005251107.4:c.3526A>G, XM_005251107.3:c.3526A>G, XM_005251107.2:c.3526A>G, XM_005251107.1:c.3526A>G, XM_017014006.3:c.3733A>G, XM_017014006.2:c.3733A>G, XM_017014006.1:c.3733A>G, XM_017014008.3:c.3634A>G, XM_017014008.2:c.3634A>G, XM_017014008.1:c.3634A>G, XM_017014009.3:c.3781A>G, XM_017014009.2:c.3781A>G, XM_017014009.1:c.3781A>G, XM_017014010.3:c.3493A>G, XM_017014010.2:c.3493A>G, XM_017014010.1:c.3493A>G, XM_017014011.3:c.3733A>G, XM_017014011.2:c.3733A>G, XM_017014011.1:c.3733A>G, XM_017014012.3:c.3700A>G, XM_017014012.2:c.3700A>G, XM_017014012.1:c.3700A>G, XM_017014015.3:c.3607A>G, XM_017014015.2:c.3607A>G, XM_017014015.1:c.3607A>G, XM_017014016.3:c.3592A>G, XM_017014016.2:c.3592A>G, XM_017014016.1:c.3592A>G, XM_017014014.2:c.3385A>G, XM_017014014.1:c.3385A>G, XM_017014022.2:c.3049A>G, XM_017014022.1:c.3049A>G, XM_017014036.2:c.2941A>G, XM_017014036.1:c.2941A>G, XM_047422468.1:c.3700A>G, XM_047422469.1:c.3658A>G, XM_047422470.1:c.3616A>G, XM_047422471.1:c.3601A>G, XM_047422472.1:c.3568A>G, XM_047422473.1:c.3559A>G, XM_047422474.1:c.3526A>G, XM_047422475.1:c.3475A>G, XM_047422476.1:c.3460A>G, XM_047422477.1:c.3427A>G, XM_047422478.1:c.3394A>G, XM_047422479.1:c.3388A>G, XM_047422480.1:c.3568A>G, XM_047422481.1:c.3427A>G, XM_047422482.1:c.3385A>G, NP_001335413.1:p.Lys1231Glu, NP_001335418.1:p.Lys1173Glu, NP_001335419.1:p.Lys1144Glu, NP_001335438.1:p.Lys980Glu, NP_001335432.1:p.Lys948Glu, NP_001335427.1:p.Lys948Glu, NP_001335430.1:p.Lys899Glu, NP_001382583.1:p.Lys1184Glu, NP_001382581.1:p.Lys1182Glu, NP_001382582.1:p.Lys1135Glu, XP_011515697.1:p.Lys1250Glu, XP_005251163.1:p.Lys1198Glu, XP_005251164.1:p.Lys1176Glu, XP_016869495.1:p.Lys1245Glu, XP_016869497.1:p.Lys1212Glu, XP_016869498.1:p.Lys1261Glu, XP_016869499.1:p.Lys1165Glu, XP_016869500.1:p.Lys1245Glu, XP_016869501.1:p.Lys1234Glu, XP_016869504.1:p.Lys1203Glu, XP_016869505.1:p.Lys1198Glu, XP_016869503.1:p.Lys1129Glu, XP_016869511.1:p.Lys1017Glu, XP_016869525.1:p.Lys981Glu, XP_047278424.1:p.Lys1234Glu, XP_047278425.1:p.Lys1220Glu, XP_047278426.1:p.Lys1206Glu, XP_047278427.1:p.Lys1201Glu, XP_047278428.1:p.Lys1190Glu, XP_047278429.1:p.Lys1187Glu, XP_047278430.1:p.Lys1176Glu, XP_047278431.1:p.Lys1159Glu, XP_047278432.1:p.Lys1154Glu, XP_047278433.1:p.Lys1143Glu, XP_047278434.1:p.Lys1132Glu, XP_047278435.1:p.Lys1130Glu, XP_047278436.1:p.Lys1190Glu, XP_047278437.1:p.Lys1143Glu, XP_047278438.1:p.Lys1129Glu

            6.

            rs1486894407 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:103912087 (GRCh38)
              8:104924315 (GRCh37)
              Canonical SPDI:
              NC_000008.11:103912086:A:G
              Gene:
              RIMS2 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.103912087A>G, NC_000008.10:g.104924315A>G, NG_053027.1:g.417062A>G, NM_014677.5:c.1151A>G, NM_014677.4:c.1151A>G, NM_001100117.3:c.1727A>G, NM_001100117.2:c.1727A>G, NM_001348484.3:c.2000A>G, NM_001348484.2:c.2000A>G, NM_001348484.1:c.2000A>G, NM_001348489.2:c.1727A>G, NM_001348489.1:c.1727A>G, NM_001348490.2:c.1739A>G, NM_001348490.1:c.1739A>G, NR_145710.2:n.2136A>G, NR_145710.1:n.1998A>G, NM_001348491.2:c.1988A>G, NM_001348491.1:c.1988A>G, NM_001348486.2:c.1880A>G, NM_001348486.1:c.1880A>G, NM_001348494.2:c.1868A>G, NM_001348494.1:c.1868A>G, NM_001348488.2:c.1859A>G, NM_001348488.1:c.1859A>G, NM_001348509.2:c.1151A>G, NM_001348509.1:c.1151A>G, NM_001348487.2:c.1739A>G, NM_001348487.1:c.1739A>G, NM_001348495.2:c.1769A>G, NM_001348495.1:c.1769A>G, NM_001348492.2:c.1739A>G, NM_001348492.1:c.1739A>G, NM_001348496.2:c.1739A>G, NM_001348496.1:c.1739A>G, NM_001348493.2:c.1727A>G, NM_001348493.1:c.1727A>G, NM_001348497.2:c.1868A>G, NM_001348497.1:c.1868A>G, NM_001348503.2:c.1151A>G, NM_001348503.1:c.1151A>G, NM_001348498.2:c.1151A>G, NM_001348498.1:c.1151A>G, NM_001348501.2:c.1151A>G, NM_001348501.1:c.1151A>G, NM_001348485.2:c.1727A>G, NM_001348485.1:c.1727A>G, NM_001348505.2:c.1292A>G, NM_001348505.1:c.1292A>G, NM_001282881.2:c.1292A>G, NM_001282881.1:c.1292A>G, NM_001348499.2:c.1151A>G, NM_001348499.1:c.1151A>G, NM_001348507.2:c.1151A>G, NM_001348507.1:c.1151A>G, NM_001348508.2:c.1151A>G, NM_001348508.1:c.1151A>G, NM_001348506.2:c.1151A>G, NM_001348506.1:c.1151A>G, NR_145711.2:n.1439A>G, NR_145711.1:n.1471A>G, NM_001348504.2:c.1151A>G, NM_001348504.1:c.1151A>G, NM_001348500.2:c.1151A>G, NM_001348500.1:c.1151A>G, NM_001348502.2:c.1151A>G, NM_001348502.1:c.1151A>G, NM_001395654.1:c.1859A>G, NM_001395652.1:c.1739A>G, NM_001395653.1:c.1859A>G, XM_011517395.4:c.2042A>G, XM_011517395.3:c.2042A>G, XM_011517395.2:c.2042A>G, XM_011517395.1:c.2042A>G, XM_005251106.4:c.1868A>G, XM_005251106.3:c.1868A>G, XM_005251106.2:c.1868A>G, XM_005251106.1:c.1868A>G, XM_005251107.4:c.1868A>G, XM_005251107.3:c.1868A>G, XM_005251107.2:c.1868A>G, XM_005251107.1:c.1868A>G, XM_017014006.3:c.2042A>G, XM_017014006.2:c.2042A>G, XM_017014006.1:c.2042A>G, XM_017014008.3:c.2042A>G, XM_017014008.2:c.2042A>G, XM_017014008.1:c.2042A>G, XM_017014009.3:c.2042A>G, XM_017014009.2:c.2042A>G, XM_017014009.1:c.2042A>G, XM_017014010.3:c.1901A>G, XM_017014010.2:c.1901A>G, XM_017014010.1:c.1901A>G, XM_017014011.3:c.2042A>G, XM_017014011.2:c.2042A>G, XM_017014011.1:c.2042A>G, XM_017014012.3:c.2042A>G, XM_017014012.2:c.2042A>G, XM_017014012.1:c.2042A>G, XM_017014015.3:c.1901A>G, XM_017014015.2:c.1901A>G, XM_017014015.1:c.1901A>G, XM_017014016.3:c.1901A>G, XM_017014016.2:c.1901A>G, XM_017014016.1:c.1901A>G, XM_017014014.2:c.1727A>G, XM_017014014.1:c.1727A>G, XM_017014022.2:c.1292A>G, XM_017014022.1:c.1292A>G, XM_017014036.2:c.1151A>G, XM_017014036.1:c.1151A>G, XM_047422468.1:c.2042A>G, XM_047422469.1:c.2000A>G, XM_047422470.1:c.1910A>G, XM_047422471.1:c.1910A>G, XM_047422472.1:c.1910A>G, XM_047422473.1:c.1901A>G, XM_047422474.1:c.1868A>G, XM_047422475.1:c.1769A>G, XM_047422476.1:c.1769A>G, XM_047422477.1:c.1769A>G, XM_047422478.1:c.1868A>G, XM_047422479.1:c.1910A>G, XM_047422480.1:c.1910A>G, XM_047422481.1:c.1769A>G, XM_047422482.1:c.1727A>G, XM_047422483.1:c.1868A>G, NP_055492.3:p.Asp384Gly, NP_001093587.1:p.Asp576Gly, NP_001335413.1:p.Asp667Gly, NP_001335418.1:p.Asp576Gly, NP_001335419.1:p.Asp580Gly, NP_001335420.1:p.Asp663Gly, NP_001335415.1:p.Asp627Gly, NP_001335423.1:p.Asp623Gly, NP_001335417.1:p.Asp620Gly, NP_001335438.1:p.Asp384Gly, NP_001335416.1:p.Asp580Gly, NP_001335424.1:p.Asp590Gly, NP_001335421.1:p.Asp580Gly, NP_001335425.1:p.Asp580Gly, NP_001335422.1:p.Asp576Gly, NP_001335426.1:p.Asp623Gly, NP_001335432.1:p.Asp384Gly, NP_001335427.1:p.Asp384Gly, NP_001335430.1:p.Asp384Gly, NP_001335414.1:p.Asp576Gly, NP_001335434.1:p.Asp431Gly, NP_001269810.1:p.Asp431Gly, NP_001335428.1:p.Asp384Gly, NP_001335436.1:p.Asp384Gly, NP_001335437.1:p.Asp384Gly, NP_001335435.1:p.Asp384Gly, NP_001335433.1:p.Asp384Gly, NP_001335429.1:p.Asp384Gly, NP_001335431.1:p.Asp384Gly, NP_001382583.1:p.Asp620Gly, NP_001382581.1:p.Asp580Gly, NP_001382582.1:p.Asp620Gly, XP_011515697.1:p.Asp681Gly, XP_005251163.1:p.Asp623Gly, XP_005251164.1:p.Asp623Gly, XP_016869495.1:p.Asp681Gly, XP_016869497.1:p.Asp681Gly, XP_016869498.1:p.Asp681Gly, XP_016869499.1:p.Asp634Gly, XP_016869500.1:p.Asp681Gly, XP_016869501.1:p.Asp681Gly, XP_016869504.1:p.Asp634Gly, XP_016869505.1:p.Asp634Gly, XP_016869503.1:p.Asp576Gly, XP_016869511.1:p.Asp431Gly, XP_016869525.1:p.Asp384Gly, XP_047278424.1:p.Asp681Gly, XP_047278425.1:p.Asp667Gly, XP_047278426.1:p.Asp637Gly, XP_047278427.1:p.Asp637Gly, XP_047278428.1:p.Asp637Gly, XP_047278429.1:p.Asp634Gly, XP_047278430.1:p.Asp623Gly, XP_047278431.1:p.Asp590Gly, XP_047278432.1:p.Asp590Gly, XP_047278433.1:p.Asp590Gly, XP_047278434.1:p.Asp623Gly, XP_047278435.1:p.Asp637Gly, XP_047278436.1:p.Asp637Gly, XP_047278437.1:p.Asp590Gly, XP_047278438.1:p.Asp576Gly, XP_047278439.1:p.Asp623Gly

              7.

              rs1485867154 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:103885491 (GRCh38)
                8:104897719 (GRCh37)
                Canonical SPDI:
                NC_000008.11:103885490:A:G
                Gene:
                RIMS2 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000008.11:g.103885491A>G, NC_000008.10:g.104897719A>G, NG_053027.1:g.390466A>G, NM_014677.5:c.316A>G, NM_014677.4:c.316A>G, NM_001100117.3:c.892A>G, NM_001100117.2:c.892A>G, NM_001348484.3:c.1024A>G, NM_001348484.2:c.1024A>G, NM_001348484.1:c.1024A>G, NM_001348489.2:c.892A>G, NM_001348489.1:c.892A>G, NM_001348490.2:c.904A>G, NM_001348490.1:c.904A>G, NR_145710.2:n.1301A>G, NR_145710.1:n.1163A>G, NM_001348491.2:c.1012A>G, NM_001348491.1:c.1012A>G, NM_001348486.2:c.904A>G, NM_001348486.1:c.904A>G, NM_001348494.2:c.892A>G, NM_001348494.1:c.892A>G, NM_001348488.2:c.1024A>G, NM_001348488.1:c.1024A>G, NM_001348509.2:c.316A>G, NM_001348509.1:c.316A>G, NM_001348487.2:c.904A>G, NM_001348487.1:c.904A>G, NM_001348495.2:c.934A>G, NM_001348495.1:c.934A>G, NM_001348492.2:c.904A>G, NM_001348492.1:c.904A>G, NM_001348496.2:c.904A>G, NM_001348496.1:c.904A>G, NM_001348493.2:c.892A>G, NM_001348493.1:c.892A>G, NM_001348497.2:c.892A>G, NM_001348497.1:c.892A>G, NM_001348503.2:c.316A>G, NM_001348503.1:c.316A>G, NM_001348498.2:c.316A>G, NM_001348498.1:c.316A>G, NM_001348501.2:c.316A>G, NM_001348501.1:c.316A>G, NM_001348485.2:c.892A>G, NM_001348485.1:c.892A>G, NM_001348505.2:c.316A>G, NM_001348505.1:c.316A>G, NM_001282881.2:c.316A>G, NM_001282881.1:c.316A>G, NM_001348499.2:c.316A>G, NM_001348499.1:c.316A>G, NM_001348507.2:c.316A>G, NM_001348507.1:c.316A>G, NM_001348508.2:c.316A>G, NM_001348508.1:c.316A>G, NM_001348506.2:c.316A>G, NM_001348506.1:c.316A>G, NR_145711.2:n.604A>G, NR_145711.1:n.636A>G, NM_001348504.2:c.316A>G, NM_001348504.1:c.316A>G, NM_001348500.2:c.316A>G, NM_001348500.1:c.316A>G, NM_001348502.2:c.316A>G, NM_001348502.1:c.316A>G, NM_001395654.1:c.1024A>G, NM_001395652.1:c.904A>G, NM_001395653.1:c.1024A>G, XM_011517395.4:c.1066A>G, XM_011517395.3:c.1066A>G, XM_011517395.2:c.1066A>G, XM_011517395.1:c.1066A>G, XM_005251106.4:c.892A>G, XM_005251106.3:c.892A>G, XM_005251106.2:c.892A>G, XM_005251106.1:c.892A>G, XM_005251107.4:c.892A>G, XM_005251107.3:c.892A>G, XM_005251107.2:c.892A>G, XM_005251107.1:c.892A>G, XM_017014006.3:c.1066A>G, XM_017014006.2:c.1066A>G, XM_017014006.1:c.1066A>G, XM_017014008.3:c.1066A>G, XM_017014008.2:c.1066A>G, XM_017014008.1:c.1066A>G, XM_017014009.3:c.1066A>G, XM_017014009.2:c.1066A>G, XM_017014009.1:c.1066A>G, XM_017014010.3:c.1066A>G, XM_017014010.2:c.1066A>G, XM_017014010.1:c.1066A>G, XM_017014011.3:c.1066A>G, XM_017014011.2:c.1066A>G, XM_017014011.1:c.1066A>G, XM_017014012.3:c.1066A>G, XM_017014012.2:c.1066A>G, XM_017014012.1:c.1066A>G, XM_017014015.3:c.1066A>G, XM_017014015.2:c.1066A>G, XM_017014015.1:c.1066A>G, XM_017014016.3:c.1066A>G, XM_017014016.2:c.1066A>G, XM_017014016.1:c.1066A>G, XM_017014014.2:c.892A>G, XM_017014014.1:c.892A>G, XM_017014022.2:c.316A>G, XM_017014022.1:c.316A>G, XM_017014036.2:c.316A>G, XM_017014036.1:c.316A>G, XM_047422468.1:c.1066A>G, XM_047422469.1:c.1024A>G, XM_047422470.1:c.934A>G, XM_047422471.1:c.934A>G, XM_047422472.1:c.934A>G, XM_047422473.1:c.1066A>G, XM_047422474.1:c.892A>G, XM_047422475.1:c.934A>G, XM_047422476.1:c.934A>G, XM_047422477.1:c.934A>G, XM_047422478.1:c.892A>G, XM_047422479.1:c.934A>G, XM_047422480.1:c.934A>G, XM_047422481.1:c.934A>G, XM_047422482.1:c.892A>G, XM_047422483.1:c.892A>G, NP_055492.3:p.Arg106Gly, NP_001093587.1:p.Arg298Gly, NP_001335413.1:p.Arg342Gly, NP_001335418.1:p.Arg298Gly, NP_001335419.1:p.Arg302Gly, NP_001335420.1:p.Arg338Gly, NP_001335415.1:p.Arg302Gly, NP_001335423.1:p.Arg298Gly, NP_001335417.1:p.Arg342Gly, NP_001335438.1:p.Arg106Gly, NP_001335416.1:p.Arg302Gly, NP_001335424.1:p.Arg312Gly, NP_001335421.1:p.Arg302Gly, NP_001335425.1:p.Arg302Gly, NP_001335422.1:p.Arg298Gly, NP_001335426.1:p.Arg298Gly, NP_001335432.1:p.Arg106Gly, NP_001335427.1:p.Arg106Gly, NP_001335430.1:p.Arg106Gly, NP_001335414.1:p.Arg298Gly, NP_001335434.1:p.Arg106Gly, NP_001269810.1:p.Arg106Gly, NP_001335428.1:p.Arg106Gly, NP_001335436.1:p.Arg106Gly, NP_001335437.1:p.Arg106Gly, NP_001335435.1:p.Arg106Gly, NP_001335433.1:p.Arg106Gly, NP_001335429.1:p.Arg106Gly, NP_001335431.1:p.Arg106Gly, NP_001382583.1:p.Arg342Gly, NP_001382581.1:p.Arg302Gly, NP_001382582.1:p.Arg342Gly, XP_011515697.1:p.Arg356Gly, XP_005251163.1:p.Arg298Gly, XP_005251164.1:p.Arg298Gly, XP_016869495.1:p.Arg356Gly, XP_016869497.1:p.Arg356Gly, XP_016869498.1:p.Arg356Gly, XP_016869499.1:p.Arg356Gly, XP_016869500.1:p.Arg356Gly, XP_016869501.1:p.Arg356Gly, XP_016869504.1:p.Arg356Gly, XP_016869505.1:p.Arg356Gly, XP_016869503.1:p.Arg298Gly, XP_016869511.1:p.Arg106Gly, XP_016869525.1:p.Arg106Gly, XP_047278424.1:p.Arg356Gly, XP_047278425.1:p.Arg342Gly, XP_047278426.1:p.Arg312Gly, XP_047278427.1:p.Arg312Gly, XP_047278428.1:p.Arg312Gly, XP_047278429.1:p.Arg356Gly, XP_047278430.1:p.Arg298Gly, XP_047278431.1:p.Arg312Gly, XP_047278432.1:p.Arg312Gly, XP_047278433.1:p.Arg312Gly, XP_047278434.1:p.Arg298Gly, XP_047278435.1:p.Arg312Gly, XP_047278436.1:p.Arg312Gly, XP_047278437.1:p.Arg312Gly, XP_047278438.1:p.Arg298Gly, XP_047278439.1:p.Arg298Gly

                8.

                rs1485141143 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  8:104251085 (GRCh38)
                  8:105263313 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:104251084:A:G
                  Gene:
                  RIMS2 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000008.11:g.104251085A>G, NC_000008.10:g.105263313A>G, NG_053027.1:g.756060A>G, NM_014677.5:c.3195A>G, NM_014677.4:c.3195A>G, NM_001100117.3:c.3753A>G, NM_001100117.2:c.3753A>G, NM_001348484.3:c.4527A>G, NM_001348484.2:c.4527A>G, NM_001348484.1:c.4527A>G, NM_001348489.2:c.4353A>G, NM_001348489.1:c.4353A>G, NM_001348490.2:c.4266A>G, NM_001348490.1:c.4266A>G, NR_145710.2:n.4461A>G, NR_145710.1:n.4323A>G, NM_001348491.2:c.3966A>G, NM_001348491.1:c.3966A>G, NM_001348486.2:c.3924A>G, NM_001348486.1:c.3924A>G, NM_001348494.2:c.3912A>G, NM_001348494.1:c.3912A>G, NM_001348488.2:c.3837A>G, NM_001348488.1:c.3837A>G, NM_001348509.2:c.3774A>G, NM_001348509.1:c.3774A>G, NM_001348487.2:c.3783A>G, NM_001348487.1:c.3783A>G, NM_001348495.2:c.3780A>G, NM_001348495.1:c.3780A>G, NM_001348492.2:c.3750A>G, NM_001348492.1:c.3750A>G, NM_001348496.2:c.3717A>G, NM_001348496.1:c.3717A>G, NM_001348493.2:c.3705A>G, NM_001348493.1:c.3705A>G, NM_001348497.2:c.3699A>G, NM_001348497.1:c.3699A>G, NM_001348503.2:c.3678A>G, NM_001348503.1:c.3678A>G, NM_001348498.2:c.3678A>G, NM_001348498.1:c.3678A>G, NM_001348501.2:c.3531A>G, NM_001348501.1:c.3531A>G, NM_001348485.2:c.3525A>G, NM_001348485.1:c.3525A>G, NM_001348505.2:c.3336A>G, NM_001348505.1:c.3336A>G, NM_001282881.2:c.3270A>G, NM_001282881.1:c.3270A>G, NM_001348499.2:c.3261A>G, NM_001348499.1:c.3261A>G, NM_001348507.2:c.3177A>G, NM_001348507.1:c.3177A>G, NM_001348508.2:c.3162A>G, NM_001348508.1:c.3162A>G, NM_001348506.2:c.3129A>G, NM_001348506.1:c.3129A>G, NR_145711.2:n.3371A>G, NR_145711.1:n.3403A>G, NM_001348504.2:c.3030A>G, NM_001348504.1:c.3030A>G, NM_001348500.2:c.3015A>G, NM_001348500.1:c.3015A>G, NM_001348502.2:c.2949A>G, NM_001348502.1:c.2949A>G, NM_001282882.2:c.561A>G, NM_001282882.1:c.561A>G, NM_001395654.1:c.4386A>G, NM_001395652.1:c.4380A>G, NM_001395653.1:c.4239A>G, XM_011517395.4:c.4836A>G, XM_011517395.3:c.4836A>G, XM_011517395.2:c.4836A>G, XM_011517395.1:c.4836A>G, XM_005251106.4:c.4428A>G, XM_005251106.3:c.4428A>G, XM_005251106.2:c.4428A>G, XM_005251106.1:c.4428A>G, XM_005251107.4:c.4362A>G, XM_005251107.3:c.4362A>G, XM_005251107.2:c.4362A>G, XM_005251107.1:c.4362A>G, XM_006716698.4:c.645A>G, XM_006716698.3:c.645A>G, XM_006716698.2:c.645A>G, XM_006716698.1:c.645A>G, XM_017014006.3:c.4821A>G, XM_017014006.2:c.4821A>G, XM_017014006.1:c.4821A>G, XM_017014008.3:c.4722A>G, XM_017014008.2:c.4722A>G, XM_017014008.1:c.4722A>G, XM_017014009.3:c.4617A>G, XM_017014009.2:c.4617A>G, XM_017014009.1:c.4617A>G, XM_017014010.3:c.4581A>G, XM_017014010.2:c.4581A>G, XM_017014010.1:c.4581A>G, XM_017014011.3:c.4569A>G, XM_017014011.2:c.4569A>G, XM_017014011.1:c.4569A>G, XM_017014012.3:c.4536A>G, XM_017014012.2:c.4536A>G, XM_017014012.1:c.4536A>G, XM_017014015.3:c.4443A>G, XM_017014015.2:c.4443A>G, XM_017014015.1:c.4443A>G, XM_017014016.3:c.4428A>G, XM_017014016.2:c.4428A>G, XM_017014016.1:c.4428A>G, XM_017014014.2:c.4473A>G, XM_017014014.1:c.4473A>G, XM_017014022.2:c.4137A>G, XM_017014022.1:c.4137A>G, XM_017014036.2:c.3777A>G, XM_017014036.1:c.3777A>G, XM_047422468.1:c.4788A>G, XM_047422469.1:c.4746A>G, XM_047422470.1:c.4704A>G, XM_047422471.1:c.4689A>G, XM_047422472.1:c.4656A>G, XM_047422473.1:c.4647A>G, XM_047422474.1:c.4614A>G, XM_047422475.1:c.4563A>G, XM_047422476.1:c.4548A>G, XM_047422477.1:c.4515A>G, XM_047422478.1:c.4482A>G, XM_047422479.1:c.4476A>G, XM_047422480.1:c.4404A>G, XM_047422481.1:c.4263A>G, XM_047422482.1:c.4221A>G, XM_047422483.1:c.3846A>G

                  9.

                  rs1483823084 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:104094604 (GRCh38)
                    8:105106832 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:104094603:T:C
                    Gene:
                    RIMS2 (Varview), LOC105375688 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000008.11:g.104094604T>C, NC_000008.10:g.105106832T>C, NG_053027.1:g.599579T>C, XM_011517395.4:c.4050T>C, XM_011517395.3:c.4050T>C, XM_011517395.2:c.4050T>C, XM_011517395.1:c.4050T>C, XM_017014006.3:c.4035T>C, XM_017014006.2:c.4035T>C, XM_017014006.1:c.4035T>C, XM_017014008.3:c.3936T>C, XM_017014008.2:c.3936T>C, XM_017014008.1:c.3936T>C, XM_017014010.3:c.3795T>C, XM_017014010.2:c.3795T>C, XM_017014010.1:c.3795T>C, XM_017014014.2:c.3687T>C, XM_017014014.1:c.3687T>C, XM_017014022.2:c.3351T>C, XM_017014022.1:c.3351T>C, XM_047422468.1:c.4002T>C, XM_047422469.1:c.3960T>C, XM_047422470.1:c.3918T>C, XM_047422471.1:c.3903T>C, XM_047422472.1:c.3870T>C, XM_047422473.1:c.3861T>C, XM_047422474.1:c.3828T>C, XM_047422475.1:c.3777T>C, XM_047422476.1:c.3762T>C, XM_047422477.1:c.3729T>C, XM_047422478.1:c.3696T>C, XM_047422479.1:c.3690T>C

                    10.

                    rs1483210716 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      8:103501024 (GRCh38)
                      8:104513252 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:103501023:G:A,NC_000008.11:103501023:G:T
                      Gene:
                      RIMS2 (Varview), LOC105375690 (Varview)
                      Functional Consequence:
                      missense_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000008.11:g.103501024G>A, NC_000008.11:g.103501024G>T, NC_000008.10:g.104513252G>A, NC_000008.10:g.104513252G>T, NG_053027.1:g.5999G>A, NG_053027.1:g.5999G>T, NM_001100117.3:c.138G>A, NM_001100117.3:c.138G>T, NM_001100117.2:c.138G>A, NM_001100117.2:c.138G>T, NM_001348484.3:c.138G>A, NM_001348484.3:c.138G>T, NM_001348484.2:c.138G>A, NM_001348484.2:c.138G>T, NM_001348484.1:c.138G>A, NM_001348484.1:c.138G>T, NM_001348489.2:c.138G>A, NM_001348489.2:c.138G>T, NM_001348489.1:c.138G>A, NM_001348489.1:c.138G>T, NM_001348490.2:c.138G>A, NM_001348490.2:c.138G>T, NM_001348490.1:c.138G>A, NM_001348490.1:c.138G>T, NR_145710.2:n.415G>A, NR_145710.2:n.415G>T, NR_145710.1:n.277G>A, NR_145710.1:n.277G>T, NM_001348491.2:c.138G>A, NM_001348491.2:c.138G>T, NM_001348491.1:c.138G>A, NM_001348491.1:c.138G>T, NM_001348486.2:c.138G>A, NM_001348486.2:c.138G>T, NM_001348486.1:c.138G>A, NM_001348486.1:c.138G>T, NM_001348494.2:c.138G>A, NM_001348494.2:c.138G>T, NM_001348494.1:c.138G>A, NM_001348494.1:c.138G>T, NM_001348488.2:c.138G>A, NM_001348488.2:c.138G>T, NM_001348488.1:c.138G>A, NM_001348488.1:c.138G>T, NM_001348487.2:c.138G>A, NM_001348487.2:c.138G>T, NM_001348487.1:c.138G>A, NM_001348487.1:c.138G>T, NM_001348495.2:c.138G>A, NM_001348495.2:c.138G>T, NM_001348495.1:c.138G>A, NM_001348495.1:c.138G>T, NM_001348492.2:c.138G>A, NM_001348492.2:c.138G>T, NM_001348492.1:c.138G>A, NM_001348492.1:c.138G>T, NM_001348496.2:c.138G>A, NM_001348496.2:c.138G>T, NM_001348496.1:c.138G>A, NM_001348496.1:c.138G>T, NM_001348493.2:c.138G>A, NM_001348493.2:c.138G>T, NM_001348493.1:c.138G>A, NM_001348493.1:c.138G>T, NM_001348497.2:c.138G>A, NM_001348497.2:c.138G>T, NM_001348497.1:c.138G>A, NM_001348497.1:c.138G>T, NM_001348485.2:c.138G>A, NM_001348485.2:c.138G>T, NM_001348485.1:c.138G>A, NM_001348485.1:c.138G>T, NM_001395654.1:c.138G>A, NM_001395654.1:c.138G>T, NM_001395652.1:c.138G>A, NM_001395652.1:c.138G>T, NM_001395653.1:c.138G>A, NM_001395653.1:c.138G>T, XM_011517395.4:c.138G>A, XM_011517395.4:c.138G>T, XM_011517395.3:c.138G>A, XM_011517395.3:c.138G>T, XM_011517395.2:c.138G>A, XM_011517395.2:c.138G>T, XM_011517395.1:c.138G>A, XM_011517395.1:c.138G>T, XM_005251106.4:c.138G>A, XM_005251106.4:c.138G>T, XM_005251106.3:c.138G>A, XM_005251106.3:c.138G>T, XM_005251106.2:c.138G>A, XM_005251106.2:c.138G>T, XM_005251106.1:c.138G>A, XM_005251106.1:c.138G>T, XM_005251107.4:c.138G>A, XM_005251107.4:c.138G>T, XM_005251107.3:c.138G>A, XM_005251107.3:c.138G>T, XM_005251107.2:c.138G>A, XM_005251107.2:c.138G>T, XM_005251107.1:c.138G>A, XM_005251107.1:c.138G>T, XM_017014006.3:c.138G>A, XM_017014006.3:c.138G>T, XM_017014006.2:c.138G>A, XM_017014006.2:c.138G>T, XM_017014006.1:c.138G>A, XM_017014006.1:c.138G>T, XM_017014008.3:c.138G>A, XM_017014008.3:c.138G>T, XM_017014008.2:c.138G>A, XM_017014008.2:c.138G>T, XM_017014008.1:c.138G>A, XM_017014008.1:c.138G>T, XM_017014009.3:c.138G>A, XM_017014009.3:c.138G>T, XM_017014009.2:c.138G>A, XM_017014009.2:c.138G>T, XM_017014009.1:c.138G>A, XM_017014009.1:c.138G>T, XM_017014010.3:c.138G>A, XM_017014010.3:c.138G>T, XM_017014010.2:c.138G>A, XM_017014010.2:c.138G>T, XM_017014010.1:c.138G>A, XM_017014010.1:c.138G>T, XM_017014011.3:c.138G>A, XM_017014011.3:c.138G>T, XM_017014011.2:c.138G>A, XM_017014011.2:c.138G>T, XM_017014011.1:c.138G>A, XM_017014011.1:c.138G>T, XM_017014012.3:c.138G>A, XM_017014012.3:c.138G>T, XM_017014012.2:c.138G>A, XM_017014012.2:c.138G>T, XM_017014012.1:c.138G>A, XM_017014012.1:c.138G>T, XM_017014015.3:c.138G>A, XM_017014015.3:c.138G>T, XM_017014015.2:c.138G>A, XM_017014015.2:c.138G>T, XM_017014015.1:c.138G>A, XM_017014015.1:c.138G>T, XM_017014016.3:c.138G>A, XM_017014016.3:c.138G>T, XM_017014016.2:c.138G>A, XM_017014016.2:c.138G>T, XM_017014016.1:c.138G>A, XM_017014016.1:c.138G>T, XM_017014014.2:c.138G>A, XM_017014014.2:c.138G>T, XM_017014014.1:c.138G>A, XM_017014014.1:c.138G>T, XM_047422468.1:c.138G>A, XM_047422468.1:c.138G>T, XM_047422469.1:c.138G>A, XM_047422469.1:c.138G>T, XM_047422470.1:c.138G>A, XM_047422470.1:c.138G>T, XM_047422471.1:c.138G>A, XM_047422471.1:c.138G>T, XM_047422472.1:c.138G>A, XM_047422472.1:c.138G>T, XM_047422473.1:c.138G>A, XM_047422473.1:c.138G>T, XM_047422474.1:c.138G>A, XM_047422474.1:c.138G>T, XM_047422475.1:c.138G>A, XM_047422475.1:c.138G>T, XM_047422476.1:c.138G>A, XM_047422476.1:c.138G>T, XM_047422477.1:c.138G>A, XM_047422477.1:c.138G>T, XM_047422478.1:c.138G>A, XM_047422478.1:c.138G>T, XM_047422479.1:c.138G>A, XM_047422479.1:c.138G>T, XM_047422480.1:c.138G>A, XM_047422480.1:c.138G>T, XM_047422481.1:c.138G>A, XM_047422481.1:c.138G>T, XM_047422482.1:c.138G>A, XM_047422482.1:c.138G>T, XM_047422483.1:c.138G>A, XM_047422483.1:c.138G>T, NP_001093587.1:p.Arg46Ser, NP_001335413.1:p.Arg46Ser, NP_001335418.1:p.Arg46Ser, NP_001335419.1:p.Arg46Ser, NP_001335420.1:p.Arg46Ser, NP_001335415.1:p.Arg46Ser, NP_001335423.1:p.Arg46Ser, NP_001335417.1:p.Arg46Ser, NP_001335416.1:p.Arg46Ser, NP_001335424.1:p.Arg46Ser, NP_001335421.1:p.Arg46Ser, NP_001335425.1:p.Arg46Ser, NP_001335422.1:p.Arg46Ser, NP_001335426.1:p.Arg46Ser, NP_001335414.1:p.Arg46Ser, NP_001382583.1:p.Arg46Ser, NP_001382581.1:p.Arg46Ser, NP_001382582.1:p.Arg46Ser, XP_011515697.1:p.Arg46Ser, XP_005251163.1:p.Arg46Ser, XP_005251164.1:p.Arg46Ser, XP_016869495.1:p.Arg46Ser, XP_016869497.1:p.Arg46Ser, XP_016869498.1:p.Arg46Ser, XP_016869499.1:p.Arg46Ser, XP_016869500.1:p.Arg46Ser, XP_016869501.1:p.Arg46Ser, XP_016869504.1:p.Arg46Ser, XP_016869505.1:p.Arg46Ser, XP_016869503.1:p.Arg46Ser, XP_047278424.1:p.Arg46Ser, XP_047278425.1:p.Arg46Ser, XP_047278426.1:p.Arg46Ser, XP_047278427.1:p.Arg46Ser, XP_047278428.1:p.Arg46Ser, XP_047278429.1:p.Arg46Ser, XP_047278430.1:p.Arg46Ser, XP_047278431.1:p.Arg46Ser, XP_047278432.1:p.Arg46Ser, XP_047278433.1:p.Arg46Ser, XP_047278434.1:p.Arg46Ser, XP_047278435.1:p.Arg46Ser, XP_047278436.1:p.Arg46Ser, XP_047278437.1:p.Arg46Ser, XP_047278438.1:p.Arg46Ser, XP_047278439.1:p.Arg46Ser

                      11.

                      rs1482007267 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:103961088 (GRCh38)
                        8:104973316 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:103961087:G:A
                        Gene:
                        RIMS2 (Varview)
                        Functional Consequence:
                        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.103961088G>A, NC_000008.10:g.104973316G>A, NG_053027.1:g.466063G>A, NM_014677.5:c.2101G>A, NM_014677.4:c.2101G>A, NM_001100117.3:c.2725G>A, NM_001100117.2:c.2725G>A, NM_001348484.3:c.2950G>A, NM_001348484.2:c.2950G>A, NM_001348484.1:c.2950G>A, NM_001348489.2:c.2677G>A, NM_001348489.1:c.2677G>A, NM_001348490.2:c.2689G>A, NM_001348490.1:c.2689G>A, NR_145710.2:n.3291G>A, NR_145710.1:n.3153G>A, NM_001348491.2:c.2938G>A, NM_001348491.1:c.2938G>A, NM_001348486.2:c.2830G>A, NM_001348486.1:c.2830G>A, NM_001348494.2:c.2818G>A, NM_001348494.1:c.2818G>A, NM_001348488.2:c.2809G>A, NM_001348488.1:c.2809G>A, NM_001348509.2:c.2101G>A, NM_001348509.1:c.2101G>A, NM_001348487.2:c.2689G>A, NM_001348487.1:c.2689G>A, NM_001348495.2:c.2719G>A, NM_001348495.1:c.2719G>A, NM_001348492.2:c.2689G>A, NM_001348492.1:c.2689G>A, NM_001348496.2:c.2689G>A, NM_001348496.1:c.2689G>A, NM_001348493.2:c.2677G>A, NM_001348493.1:c.2677G>A, NM_001348497.2:c.2818G>A, NM_001348497.1:c.2818G>A, NM_001348503.2:c.2101G>A, NM_001348503.1:c.2101G>A, NM_001348498.2:c.2101G>A, NM_001348498.1:c.2101G>A, NM_001348501.2:c.2101G>A, NM_001348501.1:c.2101G>A, NM_001348485.2:c.2677G>A, NM_001348485.1:c.2677G>A, NM_001348505.2:c.2242G>A, NM_001348505.1:c.2242G>A, NM_001282881.2:c.2242G>A, NM_001282881.1:c.2242G>A, NM_001348499.2:c.2101G>A, NM_001348499.1:c.2101G>A, NM_001348507.2:c.2149G>A, NM_001348507.1:c.2149G>A, NM_001348508.2:c.2101G>A, NM_001348508.1:c.2101G>A, NM_001348506.2:c.2101G>A, NM_001348506.1:c.2101G>A, NR_145711.2:n.2389G>A, NR_145711.1:n.2421G>A, NM_001348504.2:c.2149G>A, NM_001348504.1:c.2149G>A, NM_001348500.2:c.2101G>A, NM_001348500.1:c.2101G>A, NM_001348502.2:c.2101G>A, NM_001348502.1:c.2101G>A, NM_001395654.1:c.2809G>A, NM_001395652.1:c.2737G>A, NM_001395653.1:c.2809G>A, XM_011517395.4:c.3040G>A, XM_011517395.3:c.3040G>A, XM_011517395.2:c.3040G>A, XM_011517395.1:c.3040G>A, XM_005251106.4:c.2818G>A, XM_005251106.3:c.2818G>A, XM_005251106.2:c.2818G>A, XM_005251106.1:c.2818G>A, XM_005251107.4:c.2818G>A, XM_005251107.3:c.2818G>A, XM_005251107.2:c.2818G>A, XM_005251107.1:c.2818G>A, XM_017014006.3:c.2992G>A, XM_017014006.2:c.2992G>A, XM_017014006.1:c.2992G>A, XM_017014008.3:c.3040G>A, XM_017014008.2:c.3040G>A, XM_017014008.1:c.3040G>A, XM_017014009.3:c.3040G>A, XM_017014009.2:c.3040G>A, XM_017014009.1:c.3040G>A, XM_017014010.3:c.2899G>A, XM_017014010.2:c.2899G>A, XM_017014010.1:c.2899G>A, XM_017014011.3:c.2992G>A, XM_017014011.2:c.2992G>A, XM_017014011.1:c.2992G>A, XM_017014012.3:c.2992G>A, XM_017014012.2:c.2992G>A, XM_017014012.1:c.2992G>A, XM_017014015.3:c.2899G>A, XM_017014015.2:c.2899G>A, XM_017014015.1:c.2899G>A, XM_017014016.3:c.2851G>A, XM_017014016.2:c.2851G>A, XM_017014016.1:c.2851G>A, XM_017014014.2:c.2677G>A, XM_017014014.1:c.2677G>A, XM_017014022.2:c.2242G>A, XM_017014022.1:c.2242G>A, XM_017014036.2:c.2101G>A, XM_017014036.1:c.2101G>A, XM_047422468.1:c.2992G>A, XM_047422469.1:c.2950G>A, XM_047422470.1:c.2908G>A, XM_047422471.1:c.2860G>A, XM_047422472.1:c.2860G>A, XM_047422473.1:c.2851G>A, XM_047422474.1:c.2818G>A, XM_047422475.1:c.2767G>A, XM_047422476.1:c.2719G>A, XM_047422477.1:c.2719G>A, XM_047422478.1:c.2866G>A, XM_047422479.1:c.2860G>A, XM_047422480.1:c.2860G>A, XM_047422481.1:c.2719G>A, XM_047422482.1:c.2677G>A, XM_047422483.1:c.2818G>A, NP_055492.3:p.Glu701Lys, NP_001093587.1:p.Glu909Lys, NP_001335413.1:p.Glu984Lys, NP_001335418.1:p.Glu893Lys, NP_001335419.1:p.Glu897Lys, NP_001335420.1:p.Glu980Lys, NP_001335415.1:p.Glu944Lys, NP_001335423.1:p.Glu940Lys, NP_001335417.1:p.Glu937Lys, NP_001335438.1:p.Glu701Lys, NP_001335416.1:p.Glu897Lys, NP_001335424.1:p.Glu907Lys, NP_001335421.1:p.Glu897Lys, NP_001335425.1:p.Glu897Lys, NP_001335422.1:p.Glu893Lys, NP_001335426.1:p.Glu940Lys, NP_001335432.1:p.Glu701Lys, NP_001335427.1:p.Glu701Lys, NP_001335430.1:p.Glu701Lys, NP_001335414.1:p.Glu893Lys, NP_001335434.1:p.Glu748Lys, NP_001269810.1:p.Glu748Lys, NP_001335428.1:p.Glu701Lys, NP_001335436.1:p.Glu717Lys, NP_001335437.1:p.Glu701Lys, NP_001335435.1:p.Glu701Lys, NP_001335433.1:p.Glu717Lys, NP_001335429.1:p.Glu701Lys, NP_001335431.1:p.Glu701Lys, NP_001382583.1:p.Glu937Lys, NP_001382581.1:p.Glu913Lys, NP_001382582.1:p.Glu937Lys, XP_011515697.1:p.Glu1014Lys, XP_005251163.1:p.Glu940Lys, XP_005251164.1:p.Glu940Lys, XP_016869495.1:p.Glu998Lys, XP_016869497.1:p.Glu1014Lys, XP_016869498.1:p.Glu1014Lys, XP_016869499.1:p.Glu967Lys, XP_016869500.1:p.Glu998Lys, XP_016869501.1:p.Glu998Lys, XP_016869504.1:p.Glu967Lys, XP_016869505.1:p.Glu951Lys, XP_016869503.1:p.Glu893Lys, XP_016869511.1:p.Glu748Lys, XP_016869525.1:p.Glu701Lys, XP_047278424.1:p.Glu998Lys, XP_047278425.1:p.Glu984Lys, XP_047278426.1:p.Glu970Lys, XP_047278427.1:p.Glu954Lys, XP_047278428.1:p.Glu954Lys, XP_047278429.1:p.Glu951Lys, XP_047278430.1:p.Glu940Lys, XP_047278431.1:p.Glu923Lys, XP_047278432.1:p.Glu907Lys, XP_047278433.1:p.Glu907Lys, XP_047278434.1:p.Glu956Lys, XP_047278435.1:p.Glu954Lys, XP_047278436.1:p.Glu954Lys, XP_047278437.1:p.Glu907Lys, XP_047278438.1:p.Glu893Lys, XP_047278439.1:p.Glu940Lys

                        12.

                        rs1481980371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          8:103989403 (GRCh38)
                          8:105001631 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:103989402:A:G
                          Gene:
                          RIMS2 (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.000043/1 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.103989403A>G, NC_000008.10:g.105001631A>G, NG_053027.1:g.494378A>G, NM_014677.5:c.2402A>G, NM_014677.4:c.2402A>G, NM_001100117.3:c.3026A>G, NM_001100117.2:c.3026A>G, NM_001348484.3:c.3251A>G, NM_001348484.2:c.3251A>G, NM_001348484.1:c.3251A>G, NM_001348489.2:c.2978A>G, NM_001348489.1:c.2978A>G, NM_001348490.2:c.2990A>G, NM_001348490.1:c.2990A>G, NR_145710.2:n.3592A>G, NR_145710.1:n.3454A>G, NM_001348491.2:c.3239A>G, NM_001348491.1:c.3239A>G, NM_001348486.2:c.3131A>G, NM_001348486.1:c.3131A>G, NM_001348494.2:c.3119A>G, NM_001348494.1:c.3119A>G, NM_001348488.2:c.3110A>G, NM_001348488.1:c.3110A>G, NM_001348509.2:c.2402A>G, NM_001348509.1:c.2402A>G, NM_001348487.2:c.2990A>G, NM_001348487.1:c.2990A>G, NM_001348495.2:c.3020A>G, NM_001348495.1:c.3020A>G, NM_001348492.2:c.2990A>G, NM_001348492.1:c.2990A>G, NM_001348496.2:c.2990A>G, NM_001348496.1:c.2990A>G, NM_001348493.2:c.2978A>G, NM_001348493.1:c.2978A>G, NM_001348497.2:c.3119A>G, NM_001348497.1:c.3119A>G, NM_001348503.2:c.2402A>G, NM_001348503.1:c.2402A>G, NM_001348498.2:c.2402A>G, NM_001348498.1:c.2402A>G, NM_001348501.2:c.2402A>G, NM_001348501.1:c.2402A>G, NM_001348485.2:c.2978A>G, NM_001348485.1:c.2978A>G, NM_001348505.2:c.2543A>G, NM_001348505.1:c.2543A>G, NM_001282881.2:c.2543A>G, NM_001282881.1:c.2543A>G, NM_001348499.2:c.2402A>G, NM_001348499.1:c.2402A>G, NM_001348507.2:c.2450A>G, NM_001348507.1:c.2450A>G, NM_001348508.2:c.2402A>G, NM_001348508.1:c.2402A>G, NM_001348506.2:c.2402A>G, NM_001348506.1:c.2402A>G, NR_145711.2:n.2690A>G, NR_145711.1:n.2722A>G, NM_001348504.2:c.2450A>G, NM_001348504.1:c.2450A>G, NM_001348500.2:c.2402A>G, NM_001348500.1:c.2402A>G, NM_001348502.2:c.2402A>G, NM_001348502.1:c.2402A>G, NM_001395654.1:c.3110A>G, NM_001395652.1:c.3038A>G, NM_001395653.1:c.3110A>G, XM_011517395.4:c.3341A>G, XM_011517395.3:c.3341A>G, XM_011517395.2:c.3341A>G, XM_011517395.1:c.3341A>G, XM_005251106.4:c.3119A>G, XM_005251106.3:c.3119A>G, XM_005251106.2:c.3119A>G, XM_005251106.1:c.3119A>G, XM_005251107.4:c.3119A>G, XM_005251107.3:c.3119A>G, XM_005251107.2:c.3119A>G, XM_005251107.1:c.3119A>G, XM_017014006.3:c.3293A>G, XM_017014006.2:c.3293A>G, XM_017014006.1:c.3293A>G, XM_017014008.3:c.3341A>G, XM_017014008.2:c.3341A>G, XM_017014008.1:c.3341A>G, XM_017014009.3:c.3341A>G, XM_017014009.2:c.3341A>G, XM_017014009.1:c.3341A>G, XM_017014010.3:c.3200A>G, XM_017014010.2:c.3200A>G, XM_017014010.1:c.3200A>G, XM_017014011.3:c.3293A>G, XM_017014011.2:c.3293A>G, XM_017014011.1:c.3293A>G, XM_017014012.3:c.3293A>G, XM_017014012.2:c.3293A>G, XM_017014012.1:c.3293A>G, XM_017014015.3:c.3200A>G, XM_017014015.2:c.3200A>G, XM_017014015.1:c.3200A>G, XM_017014016.3:c.3152A>G, XM_017014016.2:c.3152A>G, XM_017014016.1:c.3152A>G, XM_017014014.2:c.2978A>G, XM_017014014.1:c.2978A>G, XM_017014022.2:c.2543A>G, XM_017014022.1:c.2543A>G, XM_017014036.2:c.2402A>G, XM_017014036.1:c.2402A>G, XM_047422468.1:c.3293A>G, XM_047422469.1:c.3251A>G, XM_047422470.1:c.3209A>G, XM_047422471.1:c.3161A>G, XM_047422472.1:c.3161A>G, XM_047422473.1:c.3152A>G, XM_047422474.1:c.3119A>G, XM_047422475.1:c.3068A>G, XM_047422476.1:c.3020A>G, XM_047422477.1:c.3020A>G, XM_047422478.1:c.3167A>G, XM_047422479.1:c.3161A>G, XM_047422480.1:c.3161A>G, XM_047422481.1:c.3020A>G, XM_047422482.1:c.2978A>G, XM_047422483.1:c.3119A>G, NP_055492.3:p.Tyr801Cys, NP_001093587.1:p.Tyr1009Cys, NP_001335413.1:p.Tyr1084Cys, NP_001335418.1:p.Tyr993Cys, NP_001335419.1:p.Tyr997Cys, NP_001335420.1:p.Tyr1080Cys, NP_001335415.1:p.Tyr1044Cys, NP_001335423.1:p.Tyr1040Cys, NP_001335417.1:p.Tyr1037Cys, NP_001335438.1:p.Tyr801Cys, NP_001335416.1:p.Tyr997Cys, NP_001335424.1:p.Tyr1007Cys, NP_001335421.1:p.Tyr997Cys, NP_001335425.1:p.Tyr997Cys, NP_001335422.1:p.Tyr993Cys, NP_001335426.1:p.Tyr1040Cys, NP_001335432.1:p.Tyr801Cys, NP_001335427.1:p.Tyr801Cys, NP_001335430.1:p.Tyr801Cys, NP_001335414.1:p.Tyr993Cys, NP_001335434.1:p.Tyr848Cys, NP_001269810.1:p.Tyr848Cys, NP_001335428.1:p.Tyr801Cys, NP_001335436.1:p.Tyr817Cys, NP_001335437.1:p.Tyr801Cys, NP_001335435.1:p.Tyr801Cys, NP_001335433.1:p.Tyr817Cys, NP_001335429.1:p.Tyr801Cys, NP_001335431.1:p.Tyr801Cys, NP_001382583.1:p.Tyr1037Cys, NP_001382581.1:p.Tyr1013Cys, NP_001382582.1:p.Tyr1037Cys, XP_011515697.1:p.Tyr1114Cys, XP_005251163.1:p.Tyr1040Cys, XP_005251164.1:p.Tyr1040Cys, XP_016869495.1:p.Tyr1098Cys, XP_016869497.1:p.Tyr1114Cys, XP_016869498.1:p.Tyr1114Cys, XP_016869499.1:p.Tyr1067Cys, XP_016869500.1:p.Tyr1098Cys, XP_016869501.1:p.Tyr1098Cys, XP_016869504.1:p.Tyr1067Cys, XP_016869505.1:p.Tyr1051Cys, XP_016869503.1:p.Tyr993Cys, XP_016869511.1:p.Tyr848Cys, XP_016869525.1:p.Tyr801Cys, XP_047278424.1:p.Tyr1098Cys, XP_047278425.1:p.Tyr1084Cys, XP_047278426.1:p.Tyr1070Cys, XP_047278427.1:p.Tyr1054Cys, XP_047278428.1:p.Tyr1054Cys, XP_047278429.1:p.Tyr1051Cys, XP_047278430.1:p.Tyr1040Cys, XP_047278431.1:p.Tyr1023Cys, XP_047278432.1:p.Tyr1007Cys, XP_047278433.1:p.Tyr1007Cys, XP_047278434.1:p.Tyr1056Cys, XP_047278435.1:p.Tyr1054Cys, XP_047278436.1:p.Tyr1054Cys, XP_047278437.1:p.Tyr1007Cys, XP_047278438.1:p.Tyr993Cys, XP_047278439.1:p.Tyr1040Cys

                          13.

                          rs1481297932 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            8:103500937 (GRCh38)
                            8:104513165 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:103500936:C:T
                            Gene:
                            RIMS2 (Varview), LOC105375690 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000008.11:g.103500937C>T, NC_000008.10:g.104513165C>T, NG_053027.1:g.5912C>T, NM_001100117.3:c.51C>T, NM_001100117.2:c.51C>T, NM_001348484.3:c.51C>T, NM_001348484.2:c.51C>T, NM_001348484.1:c.51C>T, NM_001348489.2:c.51C>T, NM_001348489.1:c.51C>T, NM_001348490.2:c.51C>T, NM_001348490.1:c.51C>T, NR_145710.2:n.328C>T, NR_145710.1:n.190C>T, NM_001348491.2:c.51C>T, NM_001348491.1:c.51C>T, NM_001348486.2:c.51C>T, NM_001348486.1:c.51C>T, NM_001348494.2:c.51C>T, NM_001348494.1:c.51C>T, NM_001348488.2:c.51C>T, NM_001348488.1:c.51C>T, NM_001348487.2:c.51C>T, NM_001348487.1:c.51C>T, NM_001348495.2:c.51C>T, NM_001348495.1:c.51C>T, NM_001348492.2:c.51C>T, NM_001348492.1:c.51C>T, NM_001348496.2:c.51C>T, NM_001348496.1:c.51C>T, NM_001348493.2:c.51C>T, NM_001348493.1:c.51C>T, NM_001348497.2:c.51C>T, NM_001348497.1:c.51C>T, NM_001348485.2:c.51C>T, NM_001348485.1:c.51C>T, NM_001395654.1:c.51C>T, NM_001395652.1:c.51C>T, NM_001395653.1:c.51C>T, XM_011517395.4:c.51C>T, XM_011517395.3:c.51C>T, XM_011517395.2:c.51C>T, XM_011517395.1:c.51C>T, XM_005251106.4:c.51C>T, XM_005251106.3:c.51C>T, XM_005251106.2:c.51C>T, XM_005251106.1:c.51C>T, XM_005251107.4:c.51C>T, XM_005251107.3:c.51C>T, XM_005251107.2:c.51C>T, XM_005251107.1:c.51C>T, XM_017014006.3:c.51C>T, XM_017014006.2:c.51C>T, XM_017014006.1:c.51C>T, XM_017014008.3:c.51C>T, XM_017014008.2:c.51C>T, XM_017014008.1:c.51C>T, XM_017014009.3:c.51C>T, XM_017014009.2:c.51C>T, XM_017014009.1:c.51C>T, XM_017014010.3:c.51C>T, XM_017014010.2:c.51C>T, XM_017014010.1:c.51C>T, XM_017014011.3:c.51C>T, XM_017014011.2:c.51C>T, XM_017014011.1:c.51C>T, XM_017014012.3:c.51C>T, XM_017014012.2:c.51C>T, XM_017014012.1:c.51C>T, XM_017014015.3:c.51C>T, XM_017014015.2:c.51C>T, XM_017014015.1:c.51C>T, XM_017014016.3:c.51C>T, XM_017014016.2:c.51C>T, XM_017014016.1:c.51C>T, XM_017014014.2:c.51C>T, XM_017014014.1:c.51C>T, XM_047422468.1:c.51C>T, XM_047422469.1:c.51C>T, XM_047422470.1:c.51C>T, XM_047422471.1:c.51C>T, XM_047422472.1:c.51C>T, XM_047422473.1:c.51C>T, XM_047422474.1:c.51C>T, XM_047422475.1:c.51C>T, XM_047422476.1:c.51C>T, XM_047422477.1:c.51C>T, XM_047422478.1:c.51C>T, XM_047422479.1:c.51C>T, XM_047422480.1:c.51C>T, XM_047422481.1:c.51C>T, XM_047422482.1:c.51C>T, XM_047422483.1:c.51C>T

                            14.

                            rs1480737521 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:103931302 (GRCh38)
                              8:104943530 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:103931301:G:A
                              Gene:
                              RIMS2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.103931302G>A, NC_000008.10:g.104943530G>A, NG_053027.1:g.436277G>A, NM_014677.5:c.1660G>A, NM_014677.4:c.1660G>A, NM_001100117.3:c.2284G>A, NM_001100117.2:c.2284G>A, NM_001348484.3:c.2509G>A, NM_001348484.2:c.2509G>A, NM_001348484.1:c.2509G>A, NM_001348489.2:c.2236G>A, NM_001348489.1:c.2236G>A, NM_001348490.2:c.2248G>A, NM_001348490.1:c.2248G>A, NR_145710.2:n.2645G>A, NR_145710.1:n.2507G>A, NM_001348491.2:c.2497G>A, NM_001348491.1:c.2497G>A, NM_001348486.2:c.2389G>A, NM_001348486.1:c.2389G>A, NM_001348494.2:c.2377G>A, NM_001348494.1:c.2377G>A, NM_001348488.2:c.2368G>A, NM_001348488.1:c.2368G>A, NM_001348509.2:c.1660G>A, NM_001348509.1:c.1660G>A, NM_001348487.2:c.2248G>A, NM_001348487.1:c.2248G>A, NM_001348495.2:c.2278G>A, NM_001348495.1:c.2278G>A, NM_001348492.2:c.2248G>A, NM_001348492.1:c.2248G>A, NM_001348496.2:c.2248G>A, NM_001348496.1:c.2248G>A, NM_001348493.2:c.2236G>A, NM_001348493.1:c.2236G>A, NM_001348497.2:c.2377G>A, NM_001348497.1:c.2377G>A, NM_001348503.2:c.1660G>A, NM_001348503.1:c.1660G>A, NM_001348498.2:c.1660G>A, NM_001348498.1:c.1660G>A, NM_001348501.2:c.1660G>A, NM_001348501.1:c.1660G>A, NM_001348485.2:c.2236G>A, NM_001348485.1:c.2236G>A, NM_001348505.2:c.1801G>A, NM_001348505.1:c.1801G>A, NM_001282881.2:c.1801G>A, NM_001282881.1:c.1801G>A, NM_001348499.2:c.1660G>A, NM_001348499.1:c.1660G>A, NM_001348507.2:c.1708G>A, NM_001348507.1:c.1708G>A, NM_001348508.2:c.1660G>A, NM_001348508.1:c.1660G>A, NM_001348506.2:c.1660G>A, NM_001348506.1:c.1660G>A, NR_145711.2:n.1948G>A, NR_145711.1:n.1980G>A, NM_001348504.2:c.1708G>A, NM_001348504.1:c.1708G>A, NM_001348500.2:c.1660G>A, NM_001348500.1:c.1660G>A, NM_001348502.2:c.1660G>A, NM_001348502.1:c.1660G>A, NM_001395654.1:c.2368G>A, NM_001395652.1:c.2296G>A, NM_001395653.1:c.2368G>A, XM_011517395.4:c.2599G>A, XM_011517395.3:c.2599G>A, XM_011517395.2:c.2599G>A, XM_011517395.1:c.2599G>A, XM_005251106.4:c.2377G>A, XM_005251106.3:c.2377G>A, XM_005251106.2:c.2377G>A, XM_005251106.1:c.2377G>A, XM_005251107.4:c.2377G>A, XM_005251107.3:c.2377G>A, XM_005251107.2:c.2377G>A, XM_005251107.1:c.2377G>A, XM_017014006.3:c.2551G>A, XM_017014006.2:c.2551G>A, XM_017014006.1:c.2551G>A, XM_017014008.3:c.2599G>A, XM_017014008.2:c.2599G>A, XM_017014008.1:c.2599G>A, XM_017014009.3:c.2599G>A, XM_017014009.2:c.2599G>A, XM_017014009.1:c.2599G>A, XM_017014010.3:c.2458G>A, XM_017014010.2:c.2458G>A, XM_017014010.1:c.2458G>A, XM_017014011.3:c.2551G>A, XM_017014011.2:c.2551G>A, XM_017014011.1:c.2551G>A, XM_017014012.3:c.2551G>A, XM_017014012.2:c.2551G>A, XM_017014012.1:c.2551G>A, XM_017014015.3:c.2458G>A, XM_017014015.2:c.2458G>A, XM_017014015.1:c.2458G>A, XM_017014016.3:c.2410G>A, XM_017014016.2:c.2410G>A, XM_017014016.1:c.2410G>A, XM_017014014.2:c.2236G>A, XM_017014014.1:c.2236G>A, XM_017014022.2:c.1801G>A, XM_017014022.1:c.1801G>A, XM_017014036.2:c.1660G>A, XM_017014036.1:c.1660G>A, XM_047422468.1:c.2551G>A, XM_047422469.1:c.2509G>A, XM_047422470.1:c.2467G>A, XM_047422471.1:c.2419G>A, XM_047422472.1:c.2419G>A, XM_047422473.1:c.2410G>A, XM_047422474.1:c.2377G>A, XM_047422475.1:c.2326G>A, XM_047422476.1:c.2278G>A, XM_047422477.1:c.2278G>A, XM_047422478.1:c.2425G>A, XM_047422479.1:c.2419G>A, XM_047422480.1:c.2419G>A, XM_047422481.1:c.2278G>A, XM_047422482.1:c.2236G>A, XM_047422483.1:c.2377G>A, NP_055492.3:p.Val554Ile, NP_001093587.1:p.Val762Ile, NP_001335413.1:p.Val837Ile, NP_001335418.1:p.Val746Ile, NP_001335419.1:p.Val750Ile, NP_001335420.1:p.Val833Ile, NP_001335415.1:p.Val797Ile, NP_001335423.1:p.Val793Ile, NP_001335417.1:p.Val790Ile, NP_001335438.1:p.Val554Ile, NP_001335416.1:p.Val750Ile, NP_001335424.1:p.Val760Ile, NP_001335421.1:p.Val750Ile, NP_001335425.1:p.Val750Ile, NP_001335422.1:p.Val746Ile, NP_001335426.1:p.Val793Ile, NP_001335432.1:p.Val554Ile, NP_001335427.1:p.Val554Ile, NP_001335430.1:p.Val554Ile, NP_001335414.1:p.Val746Ile, NP_001335434.1:p.Val601Ile, NP_001269810.1:p.Val601Ile, NP_001335428.1:p.Val554Ile, NP_001335436.1:p.Val570Ile, NP_001335437.1:p.Val554Ile, NP_001335435.1:p.Val554Ile, NP_001335433.1:p.Val570Ile, NP_001335429.1:p.Val554Ile, NP_001335431.1:p.Val554Ile, NP_001382583.1:p.Val790Ile, NP_001382581.1:p.Val766Ile, NP_001382582.1:p.Val790Ile, XP_011515697.1:p.Val867Ile, XP_005251163.1:p.Val793Ile, XP_005251164.1:p.Val793Ile, XP_016869495.1:p.Val851Ile, XP_016869497.1:p.Val867Ile, XP_016869498.1:p.Val867Ile, XP_016869499.1:p.Val820Ile, XP_016869500.1:p.Val851Ile, XP_016869501.1:p.Val851Ile, XP_016869504.1:p.Val820Ile, XP_016869505.1:p.Val804Ile, XP_016869503.1:p.Val746Ile, XP_016869511.1:p.Val601Ile, XP_016869525.1:p.Val554Ile, XP_047278424.1:p.Val851Ile, XP_047278425.1:p.Val837Ile, XP_047278426.1:p.Val823Ile, XP_047278427.1:p.Val807Ile, XP_047278428.1:p.Val807Ile, XP_047278429.1:p.Val804Ile, XP_047278430.1:p.Val793Ile, XP_047278431.1:p.Val776Ile, XP_047278432.1:p.Val760Ile, XP_047278433.1:p.Val760Ile, XP_047278434.1:p.Val809Ile, XP_047278435.1:p.Val807Ile, XP_047278436.1:p.Val807Ile, XP_047278437.1:p.Val760Ile, XP_047278438.1:p.Val746Ile, XP_047278439.1:p.Val793Ile

                              15.

                              rs1480571510 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:103916478 (GRCh38)
                                8:104928706 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:103916477:C:T
                                Gene:
                                RIMS2 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000008.11:g.103916478C>T, NC_000008.10:g.104928706C>T, NG_053027.1:g.421453C>T, NM_014677.5:c.1401C>T, NM_014677.4:c.1401C>T, NM_001100117.3:c.1977C>T, NM_001100117.2:c.1977C>T, NM_001348484.3:c.2250C>T, NM_001348484.2:c.2250C>T, NM_001348484.1:c.2250C>T, NM_001348489.2:c.1977C>T, NM_001348489.1:c.1977C>T, NM_001348490.2:c.1989C>T, NM_001348490.1:c.1989C>T, NR_145710.2:n.2386C>T, NR_145710.1:n.2248C>T, NM_001348491.2:c.2238C>T, NM_001348491.1:c.2238C>T, NM_001348486.2:c.2130C>T, NM_001348486.1:c.2130C>T, NM_001348494.2:c.2118C>T, NM_001348494.1:c.2118C>T, NM_001348488.2:c.2109C>T, NM_001348488.1:c.2109C>T, NM_001348509.2:c.1401C>T, NM_001348509.1:c.1401C>T, NM_001348487.2:c.1989C>T, NM_001348487.1:c.1989C>T, NM_001348495.2:c.2019C>T, NM_001348495.1:c.2019C>T, NM_001348492.2:c.1989C>T, NM_001348492.1:c.1989C>T, NM_001348496.2:c.1989C>T, NM_001348496.1:c.1989C>T, NM_001348493.2:c.1977C>T, NM_001348493.1:c.1977C>T, NM_001348497.2:c.2118C>T, NM_001348497.1:c.2118C>T, NM_001348503.2:c.1401C>T, NM_001348503.1:c.1401C>T, NM_001348498.2:c.1401C>T, NM_001348498.1:c.1401C>T, NM_001348501.2:c.1401C>T, NM_001348501.1:c.1401C>T, NM_001348485.2:c.1977C>T, NM_001348485.1:c.1977C>T, NM_001348505.2:c.1542C>T, NM_001348505.1:c.1542C>T, NM_001282881.2:c.1542C>T, NM_001282881.1:c.1542C>T, NM_001348499.2:c.1401C>T, NM_001348499.1:c.1401C>T, NM_001348507.2:c.1401C>T, NM_001348507.1:c.1401C>T, NM_001348508.2:c.1401C>T, NM_001348508.1:c.1401C>T, NM_001348506.2:c.1401C>T, NM_001348506.1:c.1401C>T, NR_145711.2:n.1689C>T, NR_145711.1:n.1721C>T, NM_001348504.2:c.1401C>T, NM_001348504.1:c.1401C>T, NM_001348500.2:c.1401C>T, NM_001348500.1:c.1401C>T, NM_001348502.2:c.1401C>T, NM_001348502.1:c.1401C>T, NM_001395654.1:c.2109C>T, NM_001395652.1:c.1989C>T, NM_001395653.1:c.2109C>T, XM_011517395.4:c.2292C>T, XM_011517395.3:c.2292C>T, XM_011517395.2:c.2292C>T, XM_011517395.1:c.2292C>T, XM_005251106.4:c.2118C>T, XM_005251106.3:c.2118C>T, XM_005251106.2:c.2118C>T, XM_005251106.1:c.2118C>T, XM_005251107.4:c.2118C>T, XM_005251107.3:c.2118C>T, XM_005251107.2:c.2118C>T, XM_005251107.1:c.2118C>T, XM_017014006.3:c.2292C>T, XM_017014006.2:c.2292C>T, XM_017014006.1:c.2292C>T, XM_017014008.3:c.2292C>T, XM_017014008.2:c.2292C>T, XM_017014008.1:c.2292C>T, XM_017014009.3:c.2292C>T, XM_017014009.2:c.2292C>T, XM_017014009.1:c.2292C>T, XM_017014010.3:c.2151C>T, XM_017014010.2:c.2151C>T, XM_017014010.1:c.2151C>T, XM_017014011.3:c.2292C>T, XM_017014011.2:c.2292C>T, XM_017014011.1:c.2292C>T, XM_017014012.3:c.2292C>T, XM_017014012.2:c.2292C>T, XM_017014012.1:c.2292C>T, XM_017014015.3:c.2151C>T, XM_017014015.2:c.2151C>T, XM_017014015.1:c.2151C>T, XM_017014016.3:c.2151C>T, XM_017014016.2:c.2151C>T, XM_017014016.1:c.2151C>T, XM_017014014.2:c.1977C>T, XM_017014014.1:c.1977C>T, XM_017014022.2:c.1542C>T, XM_017014022.1:c.1542C>T, XM_017014036.2:c.1401C>T, XM_017014036.1:c.1401C>T, XM_047422468.1:c.2292C>T, XM_047422469.1:c.2250C>T, XM_047422470.1:c.2160C>T, XM_047422471.1:c.2160C>T, XM_047422472.1:c.2160C>T, XM_047422473.1:c.2151C>T, XM_047422474.1:c.2118C>T, XM_047422475.1:c.2019C>T, XM_047422476.1:c.2019C>T, XM_047422477.1:c.2019C>T, XM_047422478.1:c.2118C>T, XM_047422479.1:c.2160C>T, XM_047422480.1:c.2160C>T, XM_047422481.1:c.2019C>T, XM_047422482.1:c.1977C>T, XM_047422483.1:c.2118C>T

                                16.

                                rs1480231401 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  8:103766363 (GRCh38)
                                  8:104778591 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:103766362:C:A
                                  Gene:
                                  RIMS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.103766363C>A, NC_000008.10:g.104778591C>A, NG_053027.1:g.271338C>A, NM_001100117.3:c.524C>A, NM_001100117.2:c.524C>A, NM_001348484.3:c.656C>A, NM_001348484.2:c.656C>A, NM_001348484.1:c.656C>A, NM_001348489.2:c.524C>A, NM_001348489.1:c.524C>A, NM_001348490.2:c.536C>A, NM_001348490.1:c.536C>A, NR_145710.2:n.933C>A, NR_145710.1:n.795C>A, NM_001348491.2:c.644C>A, NM_001348491.1:c.644C>A, NM_001348486.2:c.536C>A, NM_001348486.1:c.536C>A, NM_001348494.2:c.524C>A, NM_001348494.1:c.524C>A, NM_001348488.2:c.656C>A, NM_001348488.1:c.656C>A, NM_001348487.2:c.536C>A, NM_001348487.1:c.536C>A, NM_001348495.2:c.524C>A, NM_001348495.1:c.524C>A, NM_001348492.2:c.536C>A, NM_001348492.1:c.536C>A, NM_001348496.2:c.536C>A, NM_001348496.1:c.536C>A, NM_001348493.2:c.524C>A, NM_001348493.1:c.524C>A, NM_001348497.2:c.524C>A, NM_001348497.1:c.524C>A, NM_001348485.2:c.524C>A, NM_001348485.1:c.524C>A, NM_001395654.1:c.656C>A, NM_001395652.1:c.536C>A, NM_001395653.1:c.656C>A, XM_011517395.4:c.656C>A, XM_011517395.3:c.656C>A, XM_011517395.2:c.656C>A, XM_011517395.1:c.656C>A, XM_005251106.4:c.524C>A, XM_005251106.3:c.524C>A, XM_005251106.2:c.524C>A, XM_005251106.1:c.524C>A, XM_005251107.4:c.524C>A, XM_005251107.3:c.524C>A, XM_005251107.2:c.524C>A, XM_005251107.1:c.524C>A, XM_017014006.3:c.656C>A, XM_017014006.2:c.656C>A, XM_017014006.1:c.656C>A, XM_017014008.3:c.656C>A, XM_017014008.2:c.656C>A, XM_017014008.1:c.656C>A, XM_017014009.3:c.656C>A, XM_017014009.2:c.656C>A, XM_017014009.1:c.656C>A, XM_017014010.3:c.656C>A, XM_017014010.2:c.656C>A, XM_017014010.1:c.656C>A, XM_017014011.3:c.656C>A, XM_017014011.2:c.656C>A, XM_017014011.1:c.656C>A, XM_017014012.3:c.656C>A, XM_017014012.2:c.656C>A, XM_017014012.1:c.656C>A, XM_017014015.3:c.656C>A, XM_017014015.2:c.656C>A, XM_017014015.1:c.656C>A, XM_017014016.3:c.656C>A, XM_017014016.2:c.656C>A, XM_017014016.1:c.656C>A, XM_017014014.2:c.524C>A, XM_017014014.1:c.524C>A, XM_047422468.1:c.656C>A, XM_047422469.1:c.656C>A, XM_047422470.1:c.524C>A, XM_047422471.1:c.524C>A, XM_047422472.1:c.524C>A, XM_047422473.1:c.656C>A, XM_047422474.1:c.524C>A, XM_047422475.1:c.524C>A, XM_047422476.1:c.524C>A, XM_047422477.1:c.524C>A, XM_047422478.1:c.524C>A, XM_047422479.1:c.524C>A, XM_047422480.1:c.524C>A, XM_047422481.1:c.524C>A, XM_047422482.1:c.524C>A, XM_047422483.1:c.524C>A, NP_001093587.1:p.Ala175Glu, NP_001335413.1:p.Ala219Glu, NP_001335418.1:p.Ala175Glu, NP_001335419.1:p.Ala179Glu, NP_001335420.1:p.Ala215Glu, NP_001335415.1:p.Ala179Glu, NP_001335423.1:p.Ala175Glu, NP_001335417.1:p.Ala219Glu, NP_001335416.1:p.Ala179Glu, NP_001335424.1:p.Ala175Glu, NP_001335421.1:p.Ala179Glu, NP_001335425.1:p.Ala179Glu, NP_001335422.1:p.Ala175Glu, NP_001335426.1:p.Ala175Glu, NP_001335414.1:p.Ala175Glu, NP_001382583.1:p.Ala219Glu, NP_001382581.1:p.Ala179Glu, NP_001382582.1:p.Ala219Glu, XP_011515697.1:p.Ala219Glu, XP_005251163.1:p.Ala175Glu, XP_005251164.1:p.Ala175Glu, XP_016869495.1:p.Ala219Glu, XP_016869497.1:p.Ala219Glu, XP_016869498.1:p.Ala219Glu, XP_016869499.1:p.Ala219Glu, XP_016869500.1:p.Ala219Glu, XP_016869501.1:p.Ala219Glu, XP_016869504.1:p.Ala219Glu, XP_016869505.1:p.Ala219Glu, XP_016869503.1:p.Ala175Glu, XP_047278424.1:p.Ala219Glu, XP_047278425.1:p.Ala219Glu, XP_047278426.1:p.Ala175Glu, XP_047278427.1:p.Ala175Glu, XP_047278428.1:p.Ala175Glu, XP_047278429.1:p.Ala219Glu, XP_047278430.1:p.Ala175Glu, XP_047278431.1:p.Ala175Glu, XP_047278432.1:p.Ala175Glu, XP_047278433.1:p.Ala175Glu, XP_047278434.1:p.Ala175Glu, XP_047278435.1:p.Ala175Glu, XP_047278436.1:p.Ala175Glu, XP_047278437.1:p.Ala175Glu, XP_047278438.1:p.Ala175Glu, XP_047278439.1:p.Ala175Glu

                                  17.

                                  rs1480154262 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    8:103766420 (GRCh38)
                                    8:104778648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:103766419:G:T
                                    Gene:
                                    RIMS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000008.11:g.103766420G>T, NC_000008.10:g.104778648G>T, NG_053027.1:g.271395G>T, NM_001100117.3:c.581G>T, NM_001100117.2:c.581G>T, NM_001348484.3:c.713G>T, NM_001348484.2:c.713G>T, NM_001348484.1:c.713G>T, NM_001348489.2:c.581G>T, NM_001348489.1:c.581G>T, NM_001348490.2:c.593G>T, NM_001348490.1:c.593G>T, NR_145710.2:n.990G>T, NR_145710.1:n.852G>T, NM_001348491.2:c.701G>T, NM_001348491.1:c.701G>T, NM_001348486.2:c.593G>T, NM_001348486.1:c.593G>T, NM_001348494.2:c.581G>T, NM_001348494.1:c.581G>T, NM_001348488.2:c.713G>T, NM_001348488.1:c.713G>T, NM_001348487.2:c.593G>T, NM_001348487.1:c.593G>T, NM_001348495.2:c.581G>T, NM_001348495.1:c.581G>T, NM_001348492.2:c.593G>T, NM_001348492.1:c.593G>T, NM_001348496.2:c.593G>T, NM_001348496.1:c.593G>T, NM_001348493.2:c.581G>T, NM_001348493.1:c.581G>T, NM_001348497.2:c.581G>T, NM_001348497.1:c.581G>T, NM_001348485.2:c.581G>T, NM_001348485.1:c.581G>T, NM_001395654.1:c.713G>T, NM_001395652.1:c.593G>T, NM_001395653.1:c.713G>T, XM_011517395.4:c.713G>T, XM_011517395.3:c.713G>T, XM_011517395.2:c.713G>T, XM_011517395.1:c.713G>T, XM_005251106.4:c.581G>T, XM_005251106.3:c.581G>T, XM_005251106.2:c.581G>T, XM_005251106.1:c.581G>T, XM_005251107.4:c.581G>T, XM_005251107.3:c.581G>T, XM_005251107.2:c.581G>T, XM_005251107.1:c.581G>T, XM_017014006.3:c.713G>T, XM_017014006.2:c.713G>T, XM_017014006.1:c.713G>T, XM_017014008.3:c.713G>T, XM_017014008.2:c.713G>T, XM_017014008.1:c.713G>T, XM_017014009.3:c.713G>T, XM_017014009.2:c.713G>T, XM_017014009.1:c.713G>T, XM_017014010.3:c.713G>T, XM_017014010.2:c.713G>T, XM_017014010.1:c.713G>T, XM_017014011.3:c.713G>T, XM_017014011.2:c.713G>T, XM_017014011.1:c.713G>T, XM_017014012.3:c.713G>T, XM_017014012.2:c.713G>T, XM_017014012.1:c.713G>T, XM_017014015.3:c.713G>T, XM_017014015.2:c.713G>T, XM_017014015.1:c.713G>T, XM_017014016.3:c.713G>T, XM_017014016.2:c.713G>T, XM_017014016.1:c.713G>T, XM_017014014.2:c.581G>T, XM_017014014.1:c.581G>T, XM_047422468.1:c.713G>T, XM_047422469.1:c.713G>T, XM_047422470.1:c.581G>T, XM_047422471.1:c.581G>T, XM_047422472.1:c.581G>T, XM_047422473.1:c.713G>T, XM_047422474.1:c.581G>T, XM_047422475.1:c.581G>T, XM_047422476.1:c.581G>T, XM_047422477.1:c.581G>T, XM_047422478.1:c.581G>T, XM_047422479.1:c.581G>T, XM_047422480.1:c.581G>T, XM_047422481.1:c.581G>T, XM_047422482.1:c.581G>T, XM_047422483.1:c.581G>T, NP_001093587.1:p.Gly194Val, NP_001335413.1:p.Gly238Val, NP_001335418.1:p.Gly194Val, NP_001335419.1:p.Gly198Val, NP_001335420.1:p.Gly234Val, NP_001335415.1:p.Gly198Val, NP_001335423.1:p.Gly194Val, NP_001335417.1:p.Gly238Val, NP_001335416.1:p.Gly198Val, NP_001335424.1:p.Gly194Val, NP_001335421.1:p.Gly198Val, NP_001335425.1:p.Gly198Val, NP_001335422.1:p.Gly194Val, NP_001335426.1:p.Gly194Val, NP_001335414.1:p.Gly194Val, NP_001382583.1:p.Gly238Val, NP_001382581.1:p.Gly198Val, NP_001382582.1:p.Gly238Val, XP_011515697.1:p.Gly238Val, XP_005251163.1:p.Gly194Val, XP_005251164.1:p.Gly194Val, XP_016869495.1:p.Gly238Val, XP_016869497.1:p.Gly238Val, XP_016869498.1:p.Gly238Val, XP_016869499.1:p.Gly238Val, XP_016869500.1:p.Gly238Val, XP_016869501.1:p.Gly238Val, XP_016869504.1:p.Gly238Val, XP_016869505.1:p.Gly238Val, XP_016869503.1:p.Gly194Val, XP_047278424.1:p.Gly238Val, XP_047278425.1:p.Gly238Val, XP_047278426.1:p.Gly194Val, XP_047278427.1:p.Gly194Val, XP_047278428.1:p.Gly194Val, XP_047278429.1:p.Gly238Val, XP_047278430.1:p.Gly194Val, XP_047278431.1:p.Gly194Val, XP_047278432.1:p.Gly194Val, XP_047278433.1:p.Gly194Val, XP_047278434.1:p.Gly194Val, XP_047278435.1:p.Gly194Val, XP_047278436.1:p.Gly194Val, XP_047278437.1:p.Gly194Val, XP_047278438.1:p.Gly194Val, XP_047278439.1:p.Gly194Val

                                    18.

                                    rs1479435587 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:103885713 (GRCh38)
                                      8:104897941 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:103885712:T:C
                                      Gene:
                                      RIMS2 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.103885713T>C, NC_000008.10:g.104897941T>C, NG_053027.1:g.390688T>C, NM_014677.5:c.538T>C, NM_014677.4:c.538T>C, NM_001100117.3:c.1114T>C, NM_001100117.2:c.1114T>C, NM_001348484.3:c.1246T>C, NM_001348484.2:c.1246T>C, NM_001348484.1:c.1246T>C, NM_001348489.2:c.1114T>C, NM_001348489.1:c.1114T>C, NM_001348490.2:c.1126T>C, NM_001348490.1:c.1126T>C, NR_145710.2:n.1523T>C, NR_145710.1:n.1385T>C, NM_001348491.2:c.1234T>C, NM_001348491.1:c.1234T>C, NM_001348486.2:c.1126T>C, NM_001348486.1:c.1126T>C, NM_001348494.2:c.1114T>C, NM_001348494.1:c.1114T>C, NM_001348488.2:c.1246T>C, NM_001348488.1:c.1246T>C, NM_001348509.2:c.538T>C, NM_001348509.1:c.538T>C, NM_001348487.2:c.1126T>C, NM_001348487.1:c.1126T>C, NM_001348495.2:c.1156T>C, NM_001348495.1:c.1156T>C, NM_001348492.2:c.1126T>C, NM_001348492.1:c.1126T>C, NM_001348496.2:c.1126T>C, NM_001348496.1:c.1126T>C, NM_001348493.2:c.1114T>C, NM_001348493.1:c.1114T>C, NM_001348497.2:c.1114T>C, NM_001348497.1:c.1114T>C, NM_001348503.2:c.538T>C, NM_001348503.1:c.538T>C, NM_001348498.2:c.538T>C, NM_001348498.1:c.538T>C, NM_001348501.2:c.538T>C, NM_001348501.1:c.538T>C, NM_001348485.2:c.1114T>C, NM_001348485.1:c.1114T>C, NM_001348505.2:c.538T>C, NM_001348505.1:c.538T>C, NM_001282881.2:c.538T>C, NM_001282881.1:c.538T>C, NM_001348499.2:c.538T>C, NM_001348499.1:c.538T>C, NM_001348507.2:c.538T>C, NM_001348507.1:c.538T>C, NM_001348508.2:c.538T>C, NM_001348508.1:c.538T>C, NM_001348506.2:c.538T>C, NM_001348506.1:c.538T>C, NR_145711.2:n.826T>C, NR_145711.1:n.858T>C, NM_001348504.2:c.538T>C, NM_001348504.1:c.538T>C, NM_001348500.2:c.538T>C, NM_001348500.1:c.538T>C, NM_001348502.2:c.538T>C, NM_001348502.1:c.538T>C, NM_001395654.1:c.1246T>C, NM_001395652.1:c.1126T>C, NM_001395653.1:c.1246T>C, XM_011517395.4:c.1288T>C, XM_011517395.3:c.1288T>C, XM_011517395.2:c.1288T>C, XM_011517395.1:c.1288T>C, XM_005251106.4:c.1114T>C, XM_005251106.3:c.1114T>C, XM_005251106.2:c.1114T>C, XM_005251106.1:c.1114T>C, XM_005251107.4:c.1114T>C, XM_005251107.3:c.1114T>C, XM_005251107.2:c.1114T>C, XM_005251107.1:c.1114T>C, XM_017014006.3:c.1288T>C, XM_017014006.2:c.1288T>C, XM_017014006.1:c.1288T>C, XM_017014008.3:c.1288T>C, XM_017014008.2:c.1288T>C, XM_017014008.1:c.1288T>C, XM_017014009.3:c.1288T>C, XM_017014009.2:c.1288T>C, XM_017014009.1:c.1288T>C, XM_017014010.3:c.1288T>C, XM_017014010.2:c.1288T>C, XM_017014010.1:c.1288T>C, XM_017014011.3:c.1288T>C, XM_017014011.2:c.1288T>C, XM_017014011.1:c.1288T>C, XM_017014012.3:c.1288T>C, XM_017014012.2:c.1288T>C, XM_017014012.1:c.1288T>C, XM_017014015.3:c.1288T>C, XM_017014015.2:c.1288T>C, XM_017014015.1:c.1288T>C, XM_017014016.3:c.1288T>C, XM_017014016.2:c.1288T>C, XM_017014016.1:c.1288T>C, XM_017014014.2:c.1114T>C, XM_017014014.1:c.1114T>C, XM_017014022.2:c.538T>C, XM_017014022.1:c.538T>C, XM_017014036.2:c.538T>C, XM_017014036.1:c.538T>C, XM_047422468.1:c.1288T>C, XM_047422469.1:c.1246T>C, XM_047422470.1:c.1156T>C, XM_047422471.1:c.1156T>C, XM_047422472.1:c.1156T>C, XM_047422473.1:c.1288T>C, XM_047422474.1:c.1114T>C, XM_047422475.1:c.1156T>C, XM_047422476.1:c.1156T>C, XM_047422477.1:c.1156T>C, XM_047422478.1:c.1114T>C, XM_047422479.1:c.1156T>C, XM_047422480.1:c.1156T>C, XM_047422481.1:c.1156T>C, XM_047422482.1:c.1114T>C, XM_047422483.1:c.1114T>C, NP_055492.3:p.Ser180Pro, NP_001093587.1:p.Ser372Pro, NP_001335413.1:p.Ser416Pro, NP_001335418.1:p.Ser372Pro, NP_001335419.1:p.Ser376Pro, NP_001335420.1:p.Ser412Pro, NP_001335415.1:p.Ser376Pro, NP_001335423.1:p.Ser372Pro, NP_001335417.1:p.Ser416Pro, NP_001335438.1:p.Ser180Pro, NP_001335416.1:p.Ser376Pro, NP_001335424.1:p.Ser386Pro, NP_001335421.1:p.Ser376Pro, NP_001335425.1:p.Ser376Pro, NP_001335422.1:p.Ser372Pro, NP_001335426.1:p.Ser372Pro, NP_001335432.1:p.Ser180Pro, NP_001335427.1:p.Ser180Pro, NP_001335430.1:p.Ser180Pro, NP_001335414.1:p.Ser372Pro, NP_001335434.1:p.Ser180Pro, NP_001269810.1:p.Ser180Pro, NP_001335428.1:p.Ser180Pro, NP_001335436.1:p.Ser180Pro, NP_001335437.1:p.Ser180Pro, NP_001335435.1:p.Ser180Pro, NP_001335433.1:p.Ser180Pro, NP_001335429.1:p.Ser180Pro, NP_001335431.1:p.Ser180Pro, NP_001382583.1:p.Ser416Pro, NP_001382581.1:p.Ser376Pro, NP_001382582.1:p.Ser416Pro, XP_011515697.1:p.Ser430Pro, XP_005251163.1:p.Ser372Pro, XP_005251164.1:p.Ser372Pro, XP_016869495.1:p.Ser430Pro, XP_016869497.1:p.Ser430Pro, XP_016869498.1:p.Ser430Pro, XP_016869499.1:p.Ser430Pro, XP_016869500.1:p.Ser430Pro, XP_016869501.1:p.Ser430Pro, XP_016869504.1:p.Ser430Pro, XP_016869505.1:p.Ser430Pro, XP_016869503.1:p.Ser372Pro, XP_016869511.1:p.Ser180Pro, XP_016869525.1:p.Ser180Pro, XP_047278424.1:p.Ser430Pro, XP_047278425.1:p.Ser416Pro, XP_047278426.1:p.Ser386Pro, XP_047278427.1:p.Ser386Pro, XP_047278428.1:p.Ser386Pro, XP_047278429.1:p.Ser430Pro, XP_047278430.1:p.Ser372Pro, XP_047278431.1:p.Ser386Pro, XP_047278432.1:p.Ser386Pro, XP_047278433.1:p.Ser386Pro, XP_047278434.1:p.Ser372Pro, XP_047278435.1:p.Ser386Pro, XP_047278436.1:p.Ser386Pro, XP_047278437.1:p.Ser386Pro, XP_047278438.1:p.Ser372Pro, XP_047278439.1:p.Ser372Pro

                                      19.

                                      rs1479174007 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        8:103916443 (GRCh38)
                                        8:104928671 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:103916442:C:G
                                        Gene:
                                        RIMS2 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000008.11:g.103916443C>G, NC_000008.10:g.104928671C>G, NG_053027.1:g.421418C>G, NM_014677.5:c.1366C>G, NM_014677.4:c.1366C>G, NM_001100117.3:c.1942C>G, NM_001100117.2:c.1942C>G, NM_001348484.3:c.2215C>G, NM_001348484.2:c.2215C>G, NM_001348484.1:c.2215C>G, NM_001348489.2:c.1942C>G, NM_001348489.1:c.1942C>G, NM_001348490.2:c.1954C>G, NM_001348490.1:c.1954C>G, NR_145710.2:n.2351C>G, NR_145710.1:n.2213C>G, NM_001348491.2:c.2203C>G, NM_001348491.1:c.2203C>G, NM_001348486.2:c.2095C>G, NM_001348486.1:c.2095C>G, NM_001348494.2:c.2083C>G, NM_001348494.1:c.2083C>G, NM_001348488.2:c.2074C>G, NM_001348488.1:c.2074C>G, NM_001348509.2:c.1366C>G, NM_001348509.1:c.1366C>G, NM_001348487.2:c.1954C>G, NM_001348487.1:c.1954C>G, NM_001348495.2:c.1984C>G, NM_001348495.1:c.1984C>G, NM_001348492.2:c.1954C>G, NM_001348492.1:c.1954C>G, NM_001348496.2:c.1954C>G, NM_001348496.1:c.1954C>G, NM_001348493.2:c.1942C>G, NM_001348493.1:c.1942C>G, NM_001348497.2:c.2083C>G, NM_001348497.1:c.2083C>G, NM_001348503.2:c.1366C>G, NM_001348503.1:c.1366C>G, NM_001348498.2:c.1366C>G, NM_001348498.1:c.1366C>G, NM_001348501.2:c.1366C>G, NM_001348501.1:c.1366C>G, NM_001348485.2:c.1942C>G, NM_001348485.1:c.1942C>G, NM_001348505.2:c.1507C>G, NM_001348505.1:c.1507C>G, NM_001282881.2:c.1507C>G, NM_001282881.1:c.1507C>G, NM_001348499.2:c.1366C>G, NM_001348499.1:c.1366C>G, NM_001348507.2:c.1366C>G, NM_001348507.1:c.1366C>G, NM_001348508.2:c.1366C>G, NM_001348508.1:c.1366C>G, NM_001348506.2:c.1366C>G, NM_001348506.1:c.1366C>G, NR_145711.2:n.1654C>G, NR_145711.1:n.1686C>G, NM_001348504.2:c.1366C>G, NM_001348504.1:c.1366C>G, NM_001348500.2:c.1366C>G, NM_001348500.1:c.1366C>G, NM_001348502.2:c.1366C>G, NM_001348502.1:c.1366C>G, NM_001395654.1:c.2074C>G, NM_001395652.1:c.1954C>G, NM_001395653.1:c.2074C>G, XM_011517395.4:c.2257C>G, XM_011517395.3:c.2257C>G, XM_011517395.2:c.2257C>G, XM_011517395.1:c.2257C>G, XM_005251106.4:c.2083C>G, XM_005251106.3:c.2083C>G, XM_005251106.2:c.2083C>G, XM_005251106.1:c.2083C>G, XM_005251107.4:c.2083C>G, XM_005251107.3:c.2083C>G, XM_005251107.2:c.2083C>G, XM_005251107.1:c.2083C>G, XM_017014006.3:c.2257C>G, XM_017014006.2:c.2257C>G, XM_017014006.1:c.2257C>G, XM_017014008.3:c.2257C>G, XM_017014008.2:c.2257C>G, XM_017014008.1:c.2257C>G, XM_017014009.3:c.2257C>G, XM_017014009.2:c.2257C>G, XM_017014009.1:c.2257C>G, XM_017014010.3:c.2116C>G, XM_017014010.2:c.2116C>G, XM_017014010.1:c.2116C>G, XM_017014011.3:c.2257C>G, XM_017014011.2:c.2257C>G, XM_017014011.1:c.2257C>G, XM_017014012.3:c.2257C>G, XM_017014012.2:c.2257C>G, XM_017014012.1:c.2257C>G, XM_017014015.3:c.2116C>G, XM_017014015.2:c.2116C>G, XM_017014015.1:c.2116C>G, XM_017014016.3:c.2116C>G, XM_017014016.2:c.2116C>G, XM_017014016.1:c.2116C>G, XM_017014014.2:c.1942C>G, XM_017014014.1:c.1942C>G, XM_017014022.2:c.1507C>G, XM_017014022.1:c.1507C>G, XM_017014036.2:c.1366C>G, XM_017014036.1:c.1366C>G, XM_047422468.1:c.2257C>G, XM_047422469.1:c.2215C>G, XM_047422470.1:c.2125C>G, XM_047422471.1:c.2125C>G, XM_047422472.1:c.2125C>G, XM_047422473.1:c.2116C>G, XM_047422474.1:c.2083C>G, XM_047422475.1:c.1984C>G, XM_047422476.1:c.1984C>G, XM_047422477.1:c.1984C>G, XM_047422478.1:c.2083C>G, XM_047422479.1:c.2125C>G, XM_047422480.1:c.2125C>G, XM_047422481.1:c.1984C>G, XM_047422482.1:c.1942C>G, XM_047422483.1:c.2083C>G, NP_055492.3:p.Leu456Val, NP_001093587.1:p.Leu648Val, NP_001335413.1:p.Leu739Val, NP_001335418.1:p.Leu648Val, NP_001335419.1:p.Leu652Val, NP_001335420.1:p.Leu735Val, NP_001335415.1:p.Leu699Val, NP_001335423.1:p.Leu695Val, NP_001335417.1:p.Leu692Val, NP_001335438.1:p.Leu456Val, NP_001335416.1:p.Leu652Val, NP_001335424.1:p.Leu662Val, NP_001335421.1:p.Leu652Val, NP_001335425.1:p.Leu652Val, NP_001335422.1:p.Leu648Val, NP_001335426.1:p.Leu695Val, NP_001335432.1:p.Leu456Val, NP_001335427.1:p.Leu456Val, NP_001335430.1:p.Leu456Val, NP_001335414.1:p.Leu648Val, NP_001335434.1:p.Leu503Val, NP_001269810.1:p.Leu503Val, NP_001335428.1:p.Leu456Val, NP_001335436.1:p.Leu456Val, NP_001335437.1:p.Leu456Val, NP_001335435.1:p.Leu456Val, NP_001335433.1:p.Leu456Val, NP_001335429.1:p.Leu456Val, NP_001335431.1:p.Leu456Val, NP_001382583.1:p.Leu692Val, NP_001382581.1:p.Leu652Val, NP_001382582.1:p.Leu692Val, XP_011515697.1:p.Leu753Val, XP_005251163.1:p.Leu695Val, XP_005251164.1:p.Leu695Val, XP_016869495.1:p.Leu753Val, XP_016869497.1:p.Leu753Val, XP_016869498.1:p.Leu753Val, XP_016869499.1:p.Leu706Val, XP_016869500.1:p.Leu753Val, XP_016869501.1:p.Leu753Val, XP_016869504.1:p.Leu706Val, XP_016869505.1:p.Leu706Val, XP_016869503.1:p.Leu648Val, XP_016869511.1:p.Leu503Val, XP_016869525.1:p.Leu456Val, XP_047278424.1:p.Leu753Val, XP_047278425.1:p.Leu739Val, XP_047278426.1:p.Leu709Val, XP_047278427.1:p.Leu709Val, XP_047278428.1:p.Leu709Val, XP_047278429.1:p.Leu706Val, XP_047278430.1:p.Leu695Val, XP_047278431.1:p.Leu662Val, XP_047278432.1:p.Leu662Val, XP_047278433.1:p.Leu662Val, XP_047278434.1:p.Leu695Val, XP_047278435.1:p.Leu709Val, XP_047278436.1:p.Leu709Val, XP_047278437.1:p.Leu662Val, XP_047278438.1:p.Leu648Val, XP_047278439.1:p.Leu695Val

                                        20.

                                        rs1478433667 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          8:104093549 (GRCh38)
                                          8:105105777 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:104093548:T:G
                                          Gene:
                                          RIMS2 (Varview), LOC105375688 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.104093549T>G, NC_000008.10:g.105105777T>G, NG_053027.1:g.598524T>G, NM_001348484.3:c.3772T>G, NM_001348484.2:c.3772T>G, NM_001348484.1:c.3772T>G, NM_001348489.2:c.3598T>G, NM_001348489.1:c.3598T>G, NM_001348490.2:c.3511T>G, NM_001348490.1:c.3511T>G, NM_001348509.2:c.3019T>G, NM_001348509.1:c.3019T>G, NM_001348503.2:c.2923T>G, NM_001348503.1:c.2923T>G, NM_001348498.2:c.2923T>G, NM_001348498.1:c.2923T>G, NM_001348501.2:c.2776T>G, NM_001348501.1:c.2776T>G, NM_001395654.1:c.3631T>G, NM_001395652.1:c.3625T>G, NM_001395653.1:c.3484T>G, XM_011517395.4:c.3829T>G, XM_011517395.3:c.3829T>G, XM_011517395.2:c.3829T>G, XM_011517395.1:c.3829T>G, XM_005251106.4:c.3673T>G, XM_005251106.3:c.3673T>G, XM_005251106.2:c.3673T>G, XM_005251106.1:c.3673T>G, XM_005251107.4:c.3607T>G, XM_005251107.3:c.3607T>G, XM_005251107.2:c.3607T>G, XM_005251107.1:c.3607T>G, XM_017014006.3:c.3814T>G, XM_017014006.2:c.3814T>G, XM_017014006.1:c.3814T>G, XM_017014008.3:c.3715T>G, XM_017014008.2:c.3715T>G, XM_017014008.1:c.3715T>G, XM_017014009.3:c.3862T>G, XM_017014009.2:c.3862T>G, XM_017014009.1:c.3862T>G, XM_017014010.3:c.3574T>G, XM_017014010.2:c.3574T>G, XM_017014010.1:c.3574T>G, XM_017014011.3:c.3814T>G, XM_017014011.2:c.3814T>G, XM_017014011.1:c.3814T>G, XM_017014012.3:c.3781T>G, XM_017014012.2:c.3781T>G, XM_017014012.1:c.3781T>G, XM_017014015.3:c.3688T>G, XM_017014015.2:c.3688T>G, XM_017014015.1:c.3688T>G, XM_017014016.3:c.3673T>G, XM_017014016.2:c.3673T>G, XM_017014016.1:c.3673T>G, XM_017014014.2:c.3466T>G, XM_017014014.1:c.3466T>G, XM_017014022.2:c.3130T>G, XM_017014022.1:c.3130T>G, XM_017014036.2:c.3022T>G, XM_017014036.1:c.3022T>G, XM_047422468.1:c.3781T>G, XM_047422469.1:c.3739T>G, XM_047422470.1:c.3697T>G, XM_047422471.1:c.3682T>G, XM_047422472.1:c.3649T>G, XM_047422473.1:c.3640T>G, XM_047422474.1:c.3607T>G, XM_047422475.1:c.3556T>G, XM_047422476.1:c.3541T>G, XM_047422477.1:c.3508T>G, XM_047422478.1:c.3475T>G, XM_047422479.1:c.3469T>G, XM_047422480.1:c.3649T>G, XM_047422481.1:c.3508T>G, XM_047422482.1:c.3466T>G, NP_001335413.1:p.Ser1258Ala, NP_001335418.1:p.Ser1200Ala, NP_001335419.1:p.Ser1171Ala, NP_001335438.1:p.Ser1007Ala, NP_001335432.1:p.Ser975Ala, NP_001335427.1:p.Ser975Ala, NP_001335430.1:p.Ser926Ala, NP_001382583.1:p.Ser1211Ala, NP_001382581.1:p.Ser1209Ala, NP_001382582.1:p.Ser1162Ala, XP_011515697.1:p.Ser1277Ala, XP_005251163.1:p.Ser1225Ala, XP_005251164.1:p.Ser1203Ala, XP_016869495.1:p.Ser1272Ala, XP_016869497.1:p.Ser1239Ala, XP_016869498.1:p.Ser1288Ala, XP_016869499.1:p.Ser1192Ala, XP_016869500.1:p.Ser1272Ala, XP_016869501.1:p.Ser1261Ala, XP_016869504.1:p.Ser1230Ala, XP_016869505.1:p.Ser1225Ala, XP_016869503.1:p.Ser1156Ala, XP_016869511.1:p.Ser1044Ala, XP_016869525.1:p.Ser1008Ala, XP_047278424.1:p.Ser1261Ala, XP_047278425.1:p.Ser1247Ala, XP_047278426.1:p.Ser1233Ala, XP_047278427.1:p.Ser1228Ala, XP_047278428.1:p.Ser1217Ala, XP_047278429.1:p.Ser1214Ala, XP_047278430.1:p.Ser1203Ala, XP_047278431.1:p.Ser1186Ala, XP_047278432.1:p.Ser1181Ala, XP_047278433.1:p.Ser1170Ala, XP_047278434.1:p.Ser1159Ala, XP_047278435.1:p.Ser1157Ala, XP_047278436.1:p.Ser1217Ala, XP_047278437.1:p.Ser1170Ala, XP_047278438.1:p.Ser1156Ala

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