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Items: 1 to 20 of 181

1.

rs1489128839 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    1:179813127 (GRCh38)
    1:179782262 (GRCh37)
    Canonical SPDI:
    NC_000001.11:179813126:C:A,NC_000001.11:179813126:C:T
    Gene:
    FAM163A (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.179813127C>A, NC_000001.11:g.179813127C>T, NC_000001.10:g.179782262C>A, NC_000001.10:g.179782262C>T, XM_006711175.3:c.30C>A, XM_006711175.3:c.30C>T, XM_006711175.2:c.30C>A, XM_006711175.2:c.30C>T, XM_006711175.1:c.30C>A, XM_006711175.1:c.30C>T, XM_006711174.3:c.30C>A, XM_006711174.3:c.30C>T, XM_006711174.2:c.30C>A, XM_006711174.2:c.30C>T, XM_006711174.1:c.30C>A, XM_006711174.1:c.30C>T, NM_173509.3:c.30C>A, NM_173509.3:c.30C>T, NM_173509.2:c.30C>A, NM_173509.2:c.30C>T, XM_017000389.2:c.30C>A, XM_017000389.2:c.30C>T, XM_017000389.1:c.30C>A, XM_017000389.1:c.30C>T, XM_024453399.2:c.30C>A, XM_024453399.2:c.30C>T, XM_024453399.1:c.30C>A, XM_024453399.1:c.30C>T, XM_017000386.2:c.30C>A, XM_017000386.2:c.30C>T, XM_017000386.1:c.30C>A, XM_017000386.1:c.30C>T, XM_011509217.2:c.30C>A, XM_011509217.2:c.30C>T, XM_011509217.1:c.30C>A, XM_011509217.1:c.30C>T, XM_017000388.2:c.30C>A, XM_017000388.2:c.30C>T, XM_017000388.1:c.30C>A, XM_017000388.1:c.30C>T, XM_017000390.2:c.30C>A, XM_017000390.2:c.30C>T, XM_017000390.1:c.30C>A, XM_017000390.1:c.30C>T, NM_001329712.2:c.30C>A, NM_001329712.2:c.30C>T, NM_001329712.1:c.30C>A, NM_001329712.1:c.30C>T, NM_001329716.2:c.30C>A, NM_001329716.2:c.30C>T, NM_001329716.1:c.30C>A, NM_001329716.1:c.30C>T, NM_001329715.2:c.30C>A, NM_001329715.2:c.30C>T, NM_001329715.1:c.30C>A, NM_001329715.1:c.30C>T, NM_001329714.2:c.30C>A, NM_001329714.2:c.30C>T, NM_001329714.1:c.30C>A, NM_001329714.1:c.30C>T, NM_001329713.2:c.30C>A, NM_001329713.2:c.30C>T, NM_001329713.1:c.30C>A, NM_001329713.1:c.30C>T, NM_001329718.2:c.30C>A, NM_001329718.2:c.30C>T, NM_001329718.1:c.30C>A, NM_001329718.1:c.30C>T, NM_001329717.2:c.30C>A, NM_001329717.2:c.30C>T, NM_001329717.1:c.30C>A, NM_001329717.1:c.30C>T, NM_001329719.2:c.30C>A, NM_001329719.2:c.30C>T, NM_001329719.1:c.30C>A, NM_001329719.1:c.30C>T, XM_006711177.2:c.30C>A, XM_006711177.2:c.30C>T, XM_006711177.1:c.30C>A, XM_006711177.1:c.30C>T, XM_017000393.2:c.30C>A, XM_017000393.2:c.30C>T, XM_017000393.1:c.30C>A, XM_017000393.1:c.30C>T, NM_001393416.1:c.30C>A, NM_001393416.1:c.30C>T, NM_001393415.1:c.30C>A, NM_001393415.1:c.30C>T, NM_001393422.1:c.30C>A, NM_001393422.1:c.30C>T, NM_001393423.1:c.30C>A, NM_001393423.1:c.30C>T, NM_001393418.1:c.30C>A, NM_001393418.1:c.30C>T, NM_001393421.1:c.30C>A, NM_001393421.1:c.30C>T, NM_001393417.1:c.30C>A, NM_001393417.1:c.30C>T, NM_001393419.1:c.30C>A, NM_001393419.1:c.30C>T, NM_001393420.1:c.30C>A, NM_001393420.1:c.30C>T

    2.

    rs1483406391 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:179814127 (GRCh38)
      1:179783262 (GRCh37)
      Canonical SPDI:
      NC_000001.11:179814126:A:G
      Gene:
      FAM163A (Varview), LOC105371634 (Varview)
      Functional Consequence:
      downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000001.11:g.179814127A>G, NC_000001.10:g.179783262A>G, XM_006711175.3:c.442A>G, XM_006711175.2:c.442A>G, XM_006711175.1:c.442A>G, XM_006711174.3:c.442A>G, XM_006711174.2:c.442A>G, XM_006711174.1:c.442A>G, NM_173509.3:c.442A>G, NM_173509.2:c.442A>G, XM_017000389.2:c.442A>G, XM_017000389.1:c.442A>G, XM_024453399.2:c.442A>G, XM_024453399.1:c.442A>G, XM_017000386.2:c.442A>G, XM_017000386.1:c.442A>G, XM_011509217.2:c.442A>G, XM_011509217.1:c.442A>G, XM_017000388.2:c.442A>G, XM_017000388.1:c.442A>G, XM_017000390.2:c.442A>G, XM_017000390.1:c.442A>G, NM_001329712.2:c.442A>G, NM_001329712.1:c.442A>G, NM_001329716.2:c.442A>G, NM_001329716.1:c.442A>G, NM_001329715.2:c.442A>G, NM_001329715.1:c.442A>G, NM_001329714.2:c.442A>G, NM_001329714.1:c.442A>G, NM_001329713.2:c.442A>G, NM_001329713.1:c.442A>G, NM_001329718.2:c.442A>G, NM_001329718.1:c.442A>G, NM_001329717.2:c.442A>G, NM_001329717.1:c.442A>G, NM_001329719.2:c.442A>G, NM_001329719.1:c.442A>G, XM_006711177.2:c.442A>G, XM_006711177.1:c.442A>G, XM_017000393.2:c.442A>G, XM_017000393.1:c.442A>G, NM_001393416.1:c.442A>G, NM_001393415.1:c.442A>G, NM_001393422.1:c.442A>G, NM_001393423.1:c.442A>G, NM_001393418.1:c.442A>G, NM_001393421.1:c.442A>G, NM_001393417.1:c.442A>G, NM_001393419.1:c.442A>G, NM_001393420.1:c.442A>G, XP_006711238.1:p.Thr148Ala, XP_006711237.1:p.Thr148Ala, NP_775780.1:p.Thr148Ala, XP_016855878.1:p.Thr148Ala, XP_024309167.1:p.Thr148Ala, XP_016855875.1:p.Thr148Ala, XP_011507519.1:p.Thr148Ala, XP_016855877.1:p.Thr148Ala, XP_016855879.1:p.Thr148Ala, NP_001316641.1:p.Thr148Ala, NP_001316645.1:p.Thr148Ala, NP_001316644.1:p.Thr148Ala, NP_001316643.1:p.Thr148Ala, NP_001316642.1:p.Thr148Ala, NP_001316647.1:p.Thr148Ala, NP_001316646.1:p.Thr148Ala, NP_001316648.1:p.Thr148Ala, XP_006711240.1:p.Thr148Ala, XP_016855882.1:p.Thr148Ala, NP_001380345.1:p.Thr148Ala, NP_001380344.1:p.Thr148Ala, NP_001380351.1:p.Thr148Ala, NP_001380352.1:p.Thr148Ala, NP_001380347.1:p.Thr148Ala, NP_001380350.1:p.Thr148Ala, NP_001380346.1:p.Thr148Ala, NP_001380348.1:p.Thr148Ala, NP_001380349.1:p.Thr148Ala

      3.

      rs1477619843 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:179813170 (GRCh38)
        1:179782305 (GRCh37)
        Canonical SPDI:
        NC_000001.11:179813169:C:A
        Gene:
        FAM163A (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.179813170C>A, NC_000001.10:g.179782305C>A, XM_006711175.3:c.73C>A, XM_006711175.2:c.73C>A, XM_006711175.1:c.73C>A, XM_006711174.3:c.73C>A, XM_006711174.2:c.73C>A, XM_006711174.1:c.73C>A, NM_173509.3:c.73C>A, NM_173509.2:c.73C>A, XM_017000389.2:c.73C>A, XM_017000389.1:c.73C>A, XM_024453399.2:c.73C>A, XM_024453399.1:c.73C>A, XM_017000386.2:c.73C>A, XM_017000386.1:c.73C>A, XM_011509217.2:c.73C>A, XM_011509217.1:c.73C>A, XM_017000388.2:c.73C>A, XM_017000388.1:c.73C>A, XM_017000390.2:c.73C>A, XM_017000390.1:c.73C>A, NM_001329712.2:c.73C>A, NM_001329712.1:c.73C>A, NM_001329716.2:c.73C>A, NM_001329716.1:c.73C>A, NM_001329715.2:c.73C>A, NM_001329715.1:c.73C>A, NM_001329714.2:c.73C>A, NM_001329714.1:c.73C>A, NM_001329713.2:c.73C>A, NM_001329713.1:c.73C>A, NM_001329718.2:c.73C>A, NM_001329718.1:c.73C>A, NM_001329717.2:c.73C>A, NM_001329717.1:c.73C>A, NM_001329719.2:c.73C>A, NM_001329719.1:c.73C>A, XM_006711177.2:c.73C>A, XM_006711177.1:c.73C>A, XM_017000393.2:c.73C>A, XM_017000393.1:c.73C>A, NM_001393416.1:c.73C>A, NM_001393415.1:c.73C>A, NM_001393422.1:c.73C>A, NM_001393423.1:c.73C>A, NM_001393418.1:c.73C>A, NM_001393421.1:c.73C>A, NM_001393417.1:c.73C>A, NM_001393419.1:c.73C>A, NM_001393420.1:c.73C>A, XP_006711238.1:p.Leu25Met, XP_006711237.1:p.Leu25Met, NP_775780.1:p.Leu25Met, XP_016855878.1:p.Leu25Met, XP_024309167.1:p.Leu25Met, XP_016855875.1:p.Leu25Met, XP_011507519.1:p.Leu25Met, XP_016855877.1:p.Leu25Met, XP_016855879.1:p.Leu25Met, NP_001316641.1:p.Leu25Met, NP_001316645.1:p.Leu25Met, NP_001316644.1:p.Leu25Met, NP_001316643.1:p.Leu25Met, NP_001316642.1:p.Leu25Met, NP_001316647.1:p.Leu25Met, NP_001316646.1:p.Leu25Met, NP_001316648.1:p.Leu25Met, XP_006711240.1:p.Leu25Met, XP_016855882.1:p.Leu25Met, NP_001380345.1:p.Leu25Met, NP_001380344.1:p.Leu25Met, NP_001380351.1:p.Leu25Met, NP_001380352.1:p.Leu25Met, NP_001380347.1:p.Leu25Met, NP_001380350.1:p.Leu25Met, NP_001380346.1:p.Leu25Met, NP_001380348.1:p.Leu25Met, NP_001380349.1:p.Leu25Met

        4.

        rs1471875377 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          1:179814133 (GRCh38)
          1:179783268 (GRCh37)
          Canonical SPDI:
          NC_000001.11:179814132:C:G
          Gene:
          FAM163A (Varview), LOC105371634 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000111/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.179814133C>G, NC_000001.10:g.179783268C>G, XM_006711175.3:c.448C>G, XM_006711175.2:c.448C>G, XM_006711175.1:c.448C>G, XM_006711174.3:c.448C>G, XM_006711174.2:c.448C>G, XM_006711174.1:c.448C>G, NM_173509.3:c.448C>G, NM_173509.2:c.448C>G, XM_017000389.2:c.448C>G, XM_017000389.1:c.448C>G, XM_024453399.2:c.448C>G, XM_024453399.1:c.448C>G, XM_017000386.2:c.448C>G, XM_017000386.1:c.448C>G, XM_011509217.2:c.448C>G, XM_011509217.1:c.448C>G, XM_017000388.2:c.448C>G, XM_017000388.1:c.448C>G, XM_017000390.2:c.448C>G, XM_017000390.1:c.448C>G, NM_001329712.2:c.448C>G, NM_001329712.1:c.448C>G, NM_001329716.2:c.448C>G, NM_001329716.1:c.448C>G, NM_001329715.2:c.448C>G, NM_001329715.1:c.448C>G, NM_001329714.2:c.448C>G, NM_001329714.1:c.448C>G, NM_001329713.2:c.448C>G, NM_001329713.1:c.448C>G, NM_001329718.2:c.448C>G, NM_001329718.1:c.448C>G, NM_001329717.2:c.448C>G, NM_001329717.1:c.448C>G, NM_001329719.2:c.448C>G, NM_001329719.1:c.448C>G, XM_006711177.2:c.448C>G, XM_006711177.1:c.448C>G, XM_017000393.2:c.448C>G, XM_017000393.1:c.448C>G, NM_001393416.1:c.448C>G, NM_001393415.1:c.448C>G, NM_001393422.1:c.448C>G, NM_001393423.1:c.448C>G, NM_001393418.1:c.448C>G, NM_001393421.1:c.448C>G, NM_001393417.1:c.448C>G, NM_001393419.1:c.448C>G, NM_001393420.1:c.448C>G, XP_006711238.1:p.Pro150Ala, XP_006711237.1:p.Pro150Ala, NP_775780.1:p.Pro150Ala, XP_016855878.1:p.Pro150Ala, XP_024309167.1:p.Pro150Ala, XP_016855875.1:p.Pro150Ala, XP_011507519.1:p.Pro150Ala, XP_016855877.1:p.Pro150Ala, XP_016855879.1:p.Pro150Ala, NP_001316641.1:p.Pro150Ala, NP_001316645.1:p.Pro150Ala, NP_001316644.1:p.Pro150Ala, NP_001316643.1:p.Pro150Ala, NP_001316642.1:p.Pro150Ala, NP_001316647.1:p.Pro150Ala, NP_001316646.1:p.Pro150Ala, NP_001316648.1:p.Pro150Ala, XP_006711240.1:p.Pro150Ala, XP_016855882.1:p.Pro150Ala, NP_001380345.1:p.Pro150Ala, NP_001380344.1:p.Pro150Ala, NP_001380351.1:p.Pro150Ala, NP_001380352.1:p.Pro150Ala, NP_001380347.1:p.Pro150Ala, NP_001380350.1:p.Pro150Ala, NP_001380346.1:p.Pro150Ala, NP_001380348.1:p.Pro150Ala, NP_001380349.1:p.Pro150Ala

          5.

          rs1458174579 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:179814092 (GRCh38)
            1:179783227 (GRCh37)
            Canonical SPDI:
            NC_000001.11:179814091:C:T
            Gene:
            FAM163A (Varview), LOC105371634 (Varview)
            Functional Consequence:
            downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.179814092C>T, NC_000001.10:g.179783227C>T, XM_006711175.3:c.407C>T, XM_006711175.2:c.407C>T, XM_006711175.1:c.407C>T, XM_006711174.3:c.407C>T, XM_006711174.2:c.407C>T, XM_006711174.1:c.407C>T, NM_173509.3:c.407C>T, NM_173509.2:c.407C>T, XM_017000389.2:c.407C>T, XM_017000389.1:c.407C>T, XM_024453399.2:c.407C>T, XM_024453399.1:c.407C>T, XM_017000386.2:c.407C>T, XM_017000386.1:c.407C>T, XM_011509217.2:c.407C>T, XM_011509217.1:c.407C>T, XM_017000388.2:c.407C>T, XM_017000388.1:c.407C>T, XM_017000390.2:c.407C>T, XM_017000390.1:c.407C>T, NM_001329712.2:c.407C>T, NM_001329712.1:c.407C>T, NM_001329716.2:c.407C>T, NM_001329716.1:c.407C>T, NM_001329715.2:c.407C>T, NM_001329715.1:c.407C>T, NM_001329714.2:c.407C>T, NM_001329714.1:c.407C>T, NM_001329713.2:c.407C>T, NM_001329713.1:c.407C>T, NM_001329718.2:c.407C>T, NM_001329718.1:c.407C>T, NM_001329717.2:c.407C>T, NM_001329717.1:c.407C>T, NM_001329719.2:c.407C>T, NM_001329719.1:c.407C>T, XM_006711177.2:c.407C>T, XM_006711177.1:c.407C>T, XM_017000393.2:c.407C>T, XM_017000393.1:c.407C>T, NM_001393416.1:c.407C>T, NM_001393415.1:c.407C>T, NM_001393422.1:c.407C>T, NM_001393423.1:c.407C>T, NM_001393418.1:c.407C>T, NM_001393421.1:c.407C>T, NM_001393417.1:c.407C>T, NM_001393419.1:c.407C>T, NM_001393420.1:c.407C>T, XP_006711238.1:p.Ser136Phe, XP_006711237.1:p.Ser136Phe, NP_775780.1:p.Ser136Phe, XP_016855878.1:p.Ser136Phe, XP_024309167.1:p.Ser136Phe, XP_016855875.1:p.Ser136Phe, XP_011507519.1:p.Ser136Phe, XP_016855877.1:p.Ser136Phe, XP_016855879.1:p.Ser136Phe, NP_001316641.1:p.Ser136Phe, NP_001316645.1:p.Ser136Phe, NP_001316644.1:p.Ser136Phe, NP_001316643.1:p.Ser136Phe, NP_001316642.1:p.Ser136Phe, NP_001316647.1:p.Ser136Phe, NP_001316646.1:p.Ser136Phe, NP_001316648.1:p.Ser136Phe, XP_006711240.1:p.Ser136Phe, XP_016855882.1:p.Ser136Phe, NP_001380345.1:p.Ser136Phe, NP_001380344.1:p.Ser136Phe, NP_001380351.1:p.Ser136Phe, NP_001380352.1:p.Ser136Phe, NP_001380347.1:p.Ser136Phe, NP_001380350.1:p.Ser136Phe, NP_001380346.1:p.Ser136Phe, NP_001380348.1:p.Ser136Phe, NP_001380349.1:p.Ser136Phe

            6.

            rs1455494624 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              1:179814077 (GRCh38)
              1:179783213 (GRCh37)
              Canonical SPDI:
              NC_000001.11:179814077:GGGGGG:GGGGGGG
              Gene:
              FAM163A (Varview), LOC105371634 (Varview)
              Functional Consequence:
              downstream_transcript_variant,coding_sequence_variant,frameshift_variant,500B_downstream_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              GGGGGGG=0./0 (ALFA)
              G=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.179814083dup, NC_000001.10:g.179783218dup, XM_006711175.3:c.398dup, XM_006711175.2:c.398dup, XM_006711175.1:c.398dup, XM_006711174.3:c.398dup, XM_006711174.2:c.398dup, XM_006711174.1:c.398dup, NM_173509.3:c.398dup, NM_173509.2:c.398dup, XM_017000389.2:c.398dup, XM_017000389.1:c.398dup, XM_024453399.2:c.398dup, XM_024453399.1:c.398dup, XM_017000386.2:c.398dup, XM_017000386.1:c.398dup, XM_011509217.2:c.398dup, XM_011509217.1:c.398dup, XM_017000388.2:c.398dup, XM_017000388.1:c.398dup, XM_017000390.2:c.398dup, XM_017000390.1:c.398dup, NM_001329712.2:c.398dup, NM_001329712.1:c.398dup, NM_001329716.2:c.398dup, NM_001329716.1:c.398dup, NM_001329715.2:c.398dup, NM_001329715.1:c.398dup, NM_001329714.2:c.398dup, NM_001329714.1:c.398dup, NM_001329713.2:c.398dup, NM_001329713.1:c.398dup, NM_001329718.2:c.398dup, NM_001329718.1:c.398dup, NM_001329717.2:c.398dup, NM_001329717.1:c.398dup, NM_001329719.2:c.398dup, NM_001329719.1:c.398dup, XM_006711177.2:c.398dup, XM_006711177.1:c.398dup, XM_017000393.2:c.398dup, XM_017000393.1:c.398dup, NM_001393416.1:c.398dup, NM_001393415.1:c.398dup, NM_001393422.1:c.398dup, NM_001393423.1:c.398dup, NM_001393418.1:c.398dup, NM_001393421.1:c.398dup, NM_001393417.1:c.398dup, NM_001393419.1:c.398dup, NM_001393420.1:c.398dup, XP_006711238.1:p.Pro134fs, XP_006711237.1:p.Pro134fs, NP_775780.1:p.Pro134fs, XP_016855878.1:p.Pro134fs, XP_024309167.1:p.Pro134fs, XP_016855875.1:p.Pro134fs, XP_011507519.1:p.Pro134fs, XP_016855877.1:p.Pro134fs, XP_016855879.1:p.Pro134fs, NP_001316641.1:p.Pro134fs, NP_001316645.1:p.Pro134fs, NP_001316644.1:p.Pro134fs, NP_001316643.1:p.Pro134fs, NP_001316642.1:p.Pro134fs, NP_001316647.1:p.Pro134fs, NP_001316646.1:p.Pro134fs, NP_001316648.1:p.Pro134fs, XP_006711240.1:p.Pro134fs, XP_016855882.1:p.Pro134fs, NP_001380345.1:p.Pro134fs, NP_001380344.1:p.Pro134fs, NP_001380351.1:p.Pro134fs, NP_001380352.1:p.Pro134fs, NP_001380347.1:p.Pro134fs, NP_001380350.1:p.Pro134fs, NP_001380346.1:p.Pro134fs, NP_001380348.1:p.Pro134fs, NP_001380349.1:p.Pro134fs

              7.

              rs1448230972 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                1:179814043 (GRCh38)
                1:179783178 (GRCh37)
                Canonical SPDI:
                NC_000001.11:179814042:G:T
                Gene:
                FAM163A (Varview), LOC105371634 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.179814043G>T, NC_000001.10:g.179783178G>T, XM_006711175.3:c.358G>T, XM_006711175.2:c.358G>T, XM_006711175.1:c.358G>T, XM_006711174.3:c.358G>T, XM_006711174.2:c.358G>T, XM_006711174.1:c.358G>T, NM_173509.3:c.358G>T, NM_173509.2:c.358G>T, XM_017000389.2:c.358G>T, XM_017000389.1:c.358G>T, XM_024453399.2:c.358G>T, XM_024453399.1:c.358G>T, XM_017000386.2:c.358G>T, XM_017000386.1:c.358G>T, XM_011509217.2:c.358G>T, XM_011509217.1:c.358G>T, XM_017000388.2:c.358G>T, XM_017000388.1:c.358G>T, XM_017000390.2:c.358G>T, XM_017000390.1:c.358G>T, NM_001329712.2:c.358G>T, NM_001329712.1:c.358G>T, NM_001329716.2:c.358G>T, NM_001329716.1:c.358G>T, NM_001329715.2:c.358G>T, NM_001329715.1:c.358G>T, NM_001329714.2:c.358G>T, NM_001329714.1:c.358G>T, NM_001329713.2:c.358G>T, NM_001329713.1:c.358G>T, NM_001329718.2:c.358G>T, NM_001329718.1:c.358G>T, NM_001329717.2:c.358G>T, NM_001329717.1:c.358G>T, NM_001329719.2:c.358G>T, NM_001329719.1:c.358G>T, XM_006711177.2:c.358G>T, XM_006711177.1:c.358G>T, XM_017000393.2:c.358G>T, XM_017000393.1:c.358G>T, NM_001393416.1:c.358G>T, NM_001393415.1:c.358G>T, NM_001393422.1:c.358G>T, NM_001393423.1:c.358G>T, NM_001393418.1:c.358G>T, NM_001393421.1:c.358G>T, NM_001393417.1:c.358G>T, NM_001393419.1:c.358G>T, NM_001393420.1:c.358G>T, XP_006711238.1:p.Glu120Ter, XP_006711237.1:p.Glu120Ter, NP_775780.1:p.Glu120Ter, XP_016855878.1:p.Glu120Ter, XP_024309167.1:p.Glu120Ter, XP_016855875.1:p.Glu120Ter, XP_011507519.1:p.Glu120Ter, XP_016855877.1:p.Glu120Ter, XP_016855879.1:p.Glu120Ter, NP_001316641.1:p.Glu120Ter, NP_001316645.1:p.Glu120Ter, NP_001316644.1:p.Glu120Ter, NP_001316643.1:p.Glu120Ter, NP_001316642.1:p.Glu120Ter, NP_001316647.1:p.Glu120Ter, NP_001316646.1:p.Glu120Ter, NP_001316648.1:p.Glu120Ter, XP_006711240.1:p.Glu120Ter, XP_016855882.1:p.Glu120Ter, NP_001380345.1:p.Glu120Ter, NP_001380344.1:p.Glu120Ter, NP_001380351.1:p.Glu120Ter, NP_001380352.1:p.Glu120Ter, NP_001380347.1:p.Glu120Ter, NP_001380350.1:p.Glu120Ter, NP_001380346.1:p.Glu120Ter, NP_001380348.1:p.Glu120Ter, NP_001380349.1:p.Glu120Ter

                8.

                rs1440691850 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:179813912 (GRCh38)
                  1:179783047 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:179813911:T:C
                  Gene:
                  FAM163A (Varview), LOC105371634 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  C=0.002183/4 (Korea1K)
                  HGVS:
                  NC_000001.11:g.179813912T>C, NC_000001.10:g.179783047T>C, XM_006711175.3:c.227T>C, XM_006711175.2:c.227T>C, XM_006711175.1:c.227T>C, XM_006711174.3:c.227T>C, XM_006711174.2:c.227T>C, XM_006711174.1:c.227T>C, NM_173509.3:c.227T>C, NM_173509.2:c.227T>C, XM_017000389.2:c.227T>C, XM_017000389.1:c.227T>C, XM_024453399.2:c.227T>C, XM_024453399.1:c.227T>C, XM_017000386.2:c.227T>C, XM_017000386.1:c.227T>C, XM_011509217.2:c.227T>C, XM_011509217.1:c.227T>C, XM_017000388.2:c.227T>C, XM_017000388.1:c.227T>C, XM_017000390.2:c.227T>C, XM_017000390.1:c.227T>C, NM_001329712.2:c.227T>C, NM_001329712.1:c.227T>C, NM_001329716.2:c.227T>C, NM_001329716.1:c.227T>C, NM_001329715.2:c.227T>C, NM_001329715.1:c.227T>C, NM_001329714.2:c.227T>C, NM_001329714.1:c.227T>C, NM_001329713.2:c.227T>C, NM_001329713.1:c.227T>C, NM_001329718.2:c.227T>C, NM_001329718.1:c.227T>C, NM_001329717.2:c.227T>C, NM_001329717.1:c.227T>C, NM_001329719.2:c.227T>C, NM_001329719.1:c.227T>C, XM_006711177.2:c.227T>C, XM_006711177.1:c.227T>C, XM_017000393.2:c.227T>C, XM_017000393.1:c.227T>C, NM_001393416.1:c.227T>C, NM_001393415.1:c.227T>C, NM_001393422.1:c.227T>C, NM_001393423.1:c.227T>C, NM_001393418.1:c.227T>C, NM_001393421.1:c.227T>C, NM_001393417.1:c.227T>C, NM_001393419.1:c.227T>C, NM_001393420.1:c.227T>C, XP_006711238.1:p.Leu76Pro, XP_006711237.1:p.Leu76Pro, NP_775780.1:p.Leu76Pro, XP_016855878.1:p.Leu76Pro, XP_024309167.1:p.Leu76Pro, XP_016855875.1:p.Leu76Pro, XP_011507519.1:p.Leu76Pro, XP_016855877.1:p.Leu76Pro, XP_016855879.1:p.Leu76Pro, NP_001316641.1:p.Leu76Pro, NP_001316645.1:p.Leu76Pro, NP_001316644.1:p.Leu76Pro, NP_001316643.1:p.Leu76Pro, NP_001316642.1:p.Leu76Pro, NP_001316647.1:p.Leu76Pro, NP_001316646.1:p.Leu76Pro, NP_001316648.1:p.Leu76Pro, XP_006711240.1:p.Leu76Pro, XP_016855882.1:p.Leu76Pro, NP_001380345.1:p.Leu76Pro, NP_001380344.1:p.Leu76Pro, NP_001380351.1:p.Leu76Pro, NP_001380352.1:p.Leu76Pro, NP_001380347.1:p.Leu76Pro, NP_001380350.1:p.Leu76Pro, NP_001380346.1:p.Leu76Pro, NP_001380348.1:p.Leu76Pro, NP_001380349.1:p.Leu76Pro

                  9.

                  rs1440160590 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    1:179814165 (GRCh38)
                    1:179783300 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:179814164:A:C
                    Gene:
                    FAM163A (Varview), LOC105371634 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.179814165A>C, NC_000001.10:g.179783300A>C, XM_006711175.3:c.480A>C, XM_006711175.2:c.480A>C, XM_006711175.1:c.480A>C, XM_006711174.3:c.480A>C, XM_006711174.2:c.480A>C, XM_006711174.1:c.480A>C, NM_173509.3:c.480A>C, NM_173509.2:c.480A>C, XM_017000389.2:c.480A>C, XM_017000389.1:c.480A>C, XM_024453399.2:c.480A>C, XM_024453399.1:c.480A>C, XM_017000386.2:c.480A>C, XM_017000386.1:c.480A>C, XM_011509217.2:c.480A>C, XM_011509217.1:c.480A>C, XM_017000388.2:c.480A>C, XM_017000388.1:c.480A>C, XM_017000390.2:c.480A>C, XM_017000390.1:c.480A>C, NM_001329712.2:c.480A>C, NM_001329712.1:c.480A>C, NM_001329716.2:c.480A>C, NM_001329716.1:c.480A>C, NM_001329715.2:c.480A>C, NM_001329715.1:c.480A>C, NM_001329714.2:c.480A>C, NM_001329714.1:c.480A>C, NM_001329713.2:c.480A>C, NM_001329713.1:c.480A>C, NM_001329718.2:c.480A>C, NM_001329718.1:c.480A>C, NM_001329717.2:c.480A>C, NM_001329717.1:c.480A>C, NM_001329719.2:c.480A>C, NM_001329719.1:c.480A>C, XM_006711177.2:c.480A>C, XM_006711177.1:c.480A>C, XM_017000393.2:c.480A>C, XM_017000393.1:c.480A>C, NM_001393416.1:c.480A>C, NM_001393415.1:c.480A>C, NM_001393422.1:c.480A>C, NM_001393423.1:c.480A>C, NM_001393418.1:c.480A>C, NM_001393421.1:c.480A>C, NM_001393417.1:c.480A>C, NM_001393419.1:c.480A>C, NM_001393420.1:c.480A>C

                    10.

                    rs1438584089 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      1:179813154 (GRCh38)
                      1:179782289 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:179813153:C:G,NC_000001.11:179813153:C:T
                      Gene:
                      FAM163A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000001.11:g.179813154C>G, NC_000001.11:g.179813154C>T, NC_000001.10:g.179782289C>G, NC_000001.10:g.179782289C>T, XM_006711175.3:c.57C>G, XM_006711175.3:c.57C>T, XM_006711175.2:c.57C>G, XM_006711175.2:c.57C>T, XM_006711175.1:c.57C>G, XM_006711175.1:c.57C>T, XM_006711174.3:c.57C>G, XM_006711174.3:c.57C>T, XM_006711174.2:c.57C>G, XM_006711174.2:c.57C>T, XM_006711174.1:c.57C>G, XM_006711174.1:c.57C>T, NM_173509.3:c.57C>G, NM_173509.3:c.57C>T, NM_173509.2:c.57C>G, NM_173509.2:c.57C>T, XM_017000389.2:c.57C>G, XM_017000389.2:c.57C>T, XM_017000389.1:c.57C>G, XM_017000389.1:c.57C>T, XM_024453399.2:c.57C>G, XM_024453399.2:c.57C>T, XM_024453399.1:c.57C>G, XM_024453399.1:c.57C>T, XM_017000386.2:c.57C>G, XM_017000386.2:c.57C>T, XM_017000386.1:c.57C>G, XM_017000386.1:c.57C>T, XM_011509217.2:c.57C>G, XM_011509217.2:c.57C>T, XM_011509217.1:c.57C>G, XM_011509217.1:c.57C>T, XM_017000388.2:c.57C>G, XM_017000388.2:c.57C>T, XM_017000388.1:c.57C>G, XM_017000388.1:c.57C>T, XM_017000390.2:c.57C>G, XM_017000390.2:c.57C>T, XM_017000390.1:c.57C>G, XM_017000390.1:c.57C>T, NM_001329712.2:c.57C>G, NM_001329712.2:c.57C>T, NM_001329712.1:c.57C>G, NM_001329712.1:c.57C>T, NM_001329716.2:c.57C>G, NM_001329716.2:c.57C>T, NM_001329716.1:c.57C>G, NM_001329716.1:c.57C>T, NM_001329715.2:c.57C>G, NM_001329715.2:c.57C>T, NM_001329715.1:c.57C>G, NM_001329715.1:c.57C>T, NM_001329714.2:c.57C>G, NM_001329714.2:c.57C>T, NM_001329714.1:c.57C>G, NM_001329714.1:c.57C>T, NM_001329713.2:c.57C>G, NM_001329713.2:c.57C>T, NM_001329713.1:c.57C>G, NM_001329713.1:c.57C>T, NM_001329718.2:c.57C>G, NM_001329718.2:c.57C>T, NM_001329718.1:c.57C>G, NM_001329718.1:c.57C>T, NM_001329717.2:c.57C>G, NM_001329717.2:c.57C>T, NM_001329717.1:c.57C>G, NM_001329717.1:c.57C>T, NM_001329719.2:c.57C>G, NM_001329719.2:c.57C>T, NM_001329719.1:c.57C>G, NM_001329719.1:c.57C>T, XM_006711177.2:c.57C>G, XM_006711177.2:c.57C>T, XM_006711177.1:c.57C>G, XM_006711177.1:c.57C>T, XM_017000393.2:c.57C>G, XM_017000393.2:c.57C>T, XM_017000393.1:c.57C>G, XM_017000393.1:c.57C>T, NM_001393416.1:c.57C>G, NM_001393416.1:c.57C>T, NM_001393415.1:c.57C>G, NM_001393415.1:c.57C>T, NM_001393422.1:c.57C>G, NM_001393422.1:c.57C>T, NM_001393423.1:c.57C>G, NM_001393423.1:c.57C>T, NM_001393418.1:c.57C>G, NM_001393418.1:c.57C>T, NM_001393421.1:c.57C>G, NM_001393421.1:c.57C>T, NM_001393417.1:c.57C>G, NM_001393417.1:c.57C>T, NM_001393419.1:c.57C>G, NM_001393419.1:c.57C>T, NM_001393420.1:c.57C>G, NM_001393420.1:c.57C>T

                      11.

                      rs1435625514 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        1:179814159 (GRCh38)
                        1:179783294 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:179814158:C:A,NC_000001.11:179814158:C:G
                        Gene:
                        FAM163A (Varview), LOC105371634 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000012/3 (GnomAD_exomes)
                        G=0.000021/3 (GnomAD)
                        A=0.000071/1 (TOMMO)
                        HGVS:
                        NC_000001.11:g.179814159C>A, NC_000001.11:g.179814159C>G, NC_000001.10:g.179783294C>A, NC_000001.10:g.179783294C>G, XM_006711175.3:c.474C>A, XM_006711175.3:c.474C>G, XM_006711175.2:c.474C>A, XM_006711175.2:c.474C>G, XM_006711175.1:c.474C>A, XM_006711175.1:c.474C>G, XM_006711174.3:c.474C>A, XM_006711174.3:c.474C>G, XM_006711174.2:c.474C>A, XM_006711174.2:c.474C>G, XM_006711174.1:c.474C>A, XM_006711174.1:c.474C>G, NM_173509.3:c.474C>A, NM_173509.3:c.474C>G, NM_173509.2:c.474C>A, NM_173509.2:c.474C>G, XM_017000389.2:c.474C>A, XM_017000389.2:c.474C>G, XM_017000389.1:c.474C>A, XM_017000389.1:c.474C>G, XM_024453399.2:c.474C>A, XM_024453399.2:c.474C>G, XM_024453399.1:c.474C>A, XM_024453399.1:c.474C>G, XM_017000386.2:c.474C>A, XM_017000386.2:c.474C>G, XM_017000386.1:c.474C>A, XM_017000386.1:c.474C>G, XM_011509217.2:c.474C>A, XM_011509217.2:c.474C>G, XM_011509217.1:c.474C>A, XM_011509217.1:c.474C>G, XM_017000388.2:c.474C>A, XM_017000388.2:c.474C>G, XM_017000388.1:c.474C>A, XM_017000388.1:c.474C>G, XM_017000390.2:c.474C>A, XM_017000390.2:c.474C>G, XM_017000390.1:c.474C>A, XM_017000390.1:c.474C>G, NM_001329712.2:c.474C>A, NM_001329712.2:c.474C>G, NM_001329712.1:c.474C>A, NM_001329712.1:c.474C>G, NM_001329716.2:c.474C>A, NM_001329716.2:c.474C>G, NM_001329716.1:c.474C>A, NM_001329716.1:c.474C>G, NM_001329715.2:c.474C>A, NM_001329715.2:c.474C>G, NM_001329715.1:c.474C>A, NM_001329715.1:c.474C>G, NM_001329714.2:c.474C>A, NM_001329714.2:c.474C>G, NM_001329714.1:c.474C>A, NM_001329714.1:c.474C>G, NM_001329713.2:c.474C>A, NM_001329713.2:c.474C>G, NM_001329713.1:c.474C>A, NM_001329713.1:c.474C>G, NM_001329718.2:c.474C>A, NM_001329718.2:c.474C>G, NM_001329718.1:c.474C>A, NM_001329718.1:c.474C>G, NM_001329717.2:c.474C>A, NM_001329717.2:c.474C>G, NM_001329717.1:c.474C>A, NM_001329717.1:c.474C>G, NM_001329719.2:c.474C>A, NM_001329719.2:c.474C>G, NM_001329719.1:c.474C>A, NM_001329719.1:c.474C>G, XM_006711177.2:c.474C>A, XM_006711177.2:c.474C>G, XM_006711177.1:c.474C>A, XM_006711177.1:c.474C>G, XM_017000393.2:c.474C>A, XM_017000393.2:c.474C>G, XM_017000393.1:c.474C>A, XM_017000393.1:c.474C>G, NM_001393416.1:c.474C>A, NM_001393416.1:c.474C>G, NM_001393415.1:c.474C>A, NM_001393415.1:c.474C>G, NM_001393422.1:c.474C>A, NM_001393422.1:c.474C>G, NM_001393423.1:c.474C>A, NM_001393423.1:c.474C>G, NM_001393418.1:c.474C>A, NM_001393418.1:c.474C>G, NM_001393421.1:c.474C>A, NM_001393421.1:c.474C>G, NM_001393417.1:c.474C>A, NM_001393417.1:c.474C>G, NM_001393419.1:c.474C>A, NM_001393419.1:c.474C>G, NM_001393420.1:c.474C>A, NM_001393420.1:c.474C>G

                        12.

                        rs1433099786 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          1:179813946 (GRCh38)
                          1:179783081 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:179813945:C:G,NC_000001.11:179813945:C:T
                          Gene:
                          FAM163A (Varview), LOC105371634 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000001.11:g.179813946C>G, NC_000001.11:g.179813946C>T, NC_000001.10:g.179783081C>G, NC_000001.10:g.179783081C>T, XM_006711175.3:c.261C>G, XM_006711175.3:c.261C>T, XM_006711175.2:c.261C>G, XM_006711175.2:c.261C>T, XM_006711175.1:c.261C>G, XM_006711175.1:c.261C>T, XM_006711174.3:c.261C>G, XM_006711174.3:c.261C>T, XM_006711174.2:c.261C>G, XM_006711174.2:c.261C>T, XM_006711174.1:c.261C>G, XM_006711174.1:c.261C>T, NM_173509.3:c.261C>G, NM_173509.3:c.261C>T, NM_173509.2:c.261C>G, NM_173509.2:c.261C>T, XM_017000389.2:c.261C>G, XM_017000389.2:c.261C>T, XM_017000389.1:c.261C>G, XM_017000389.1:c.261C>T, XM_024453399.2:c.261C>G, XM_024453399.2:c.261C>T, XM_024453399.1:c.261C>G, XM_024453399.1:c.261C>T, XM_017000386.2:c.261C>G, XM_017000386.2:c.261C>T, XM_017000386.1:c.261C>G, XM_017000386.1:c.261C>T, XM_011509217.2:c.261C>G, XM_011509217.2:c.261C>T, XM_011509217.1:c.261C>G, XM_011509217.1:c.261C>T, XM_017000388.2:c.261C>G, XM_017000388.2:c.261C>T, XM_017000388.1:c.261C>G, XM_017000388.1:c.261C>T, XM_017000390.2:c.261C>G, XM_017000390.2:c.261C>T, XM_017000390.1:c.261C>G, XM_017000390.1:c.261C>T, NM_001329712.2:c.261C>G, NM_001329712.2:c.261C>T, NM_001329712.1:c.261C>G, NM_001329712.1:c.261C>T, NM_001329716.2:c.261C>G, NM_001329716.2:c.261C>T, NM_001329716.1:c.261C>G, NM_001329716.1:c.261C>T, NM_001329715.2:c.261C>G, NM_001329715.2:c.261C>T, NM_001329715.1:c.261C>G, NM_001329715.1:c.261C>T, NM_001329714.2:c.261C>G, NM_001329714.2:c.261C>T, NM_001329714.1:c.261C>G, NM_001329714.1:c.261C>T, NM_001329713.2:c.261C>G, NM_001329713.2:c.261C>T, NM_001329713.1:c.261C>G, NM_001329713.1:c.261C>T, NM_001329718.2:c.261C>G, NM_001329718.2:c.261C>T, NM_001329718.1:c.261C>G, NM_001329718.1:c.261C>T, NM_001329717.2:c.261C>G, NM_001329717.2:c.261C>T, NM_001329717.1:c.261C>G, NM_001329717.1:c.261C>T, NM_001329719.2:c.261C>G, NM_001329719.2:c.261C>T, NM_001329719.1:c.261C>G, NM_001329719.1:c.261C>T, XM_006711177.2:c.261C>G, XM_006711177.2:c.261C>T, XM_006711177.1:c.261C>G, XM_006711177.1:c.261C>T, XM_017000393.2:c.261C>G, XM_017000393.2:c.261C>T, XM_017000393.1:c.261C>G, XM_017000393.1:c.261C>T, NM_001393416.1:c.261C>G, NM_001393416.1:c.261C>T, NM_001393415.1:c.261C>G, NM_001393415.1:c.261C>T, NM_001393422.1:c.261C>G, NM_001393422.1:c.261C>T, NM_001393423.1:c.261C>G, NM_001393423.1:c.261C>T, NM_001393418.1:c.261C>G, NM_001393418.1:c.261C>T, NM_001393421.1:c.261C>G, NM_001393421.1:c.261C>T, NM_001393417.1:c.261C>G, NM_001393417.1:c.261C>T, NM_001393419.1:c.261C>G, NM_001393419.1:c.261C>T, NM_001393420.1:c.261C>G, NM_001393420.1:c.261C>T

                          13.

                          rs1429988221 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:179813972 (GRCh38)
                            1:179783107 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:179813971:C:T
                            Gene:
                            FAM163A (Varview), LOC105371634 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.179813972C>T, NC_000001.10:g.179783107C>T, XM_006711175.3:c.287C>T, XM_006711175.2:c.287C>T, XM_006711175.1:c.287C>T, XM_006711174.3:c.287C>T, XM_006711174.2:c.287C>T, XM_006711174.1:c.287C>T, NM_173509.3:c.287C>T, NM_173509.2:c.287C>T, XM_017000389.2:c.287C>T, XM_017000389.1:c.287C>T, XM_024453399.2:c.287C>T, XM_024453399.1:c.287C>T, XM_017000386.2:c.287C>T, XM_017000386.1:c.287C>T, XM_011509217.2:c.287C>T, XM_011509217.1:c.287C>T, XM_017000388.2:c.287C>T, XM_017000388.1:c.287C>T, XM_017000390.2:c.287C>T, XM_017000390.1:c.287C>T, NM_001329712.2:c.287C>T, NM_001329712.1:c.287C>T, NM_001329716.2:c.287C>T, NM_001329716.1:c.287C>T, NM_001329715.2:c.287C>T, NM_001329715.1:c.287C>T, NM_001329714.2:c.287C>T, NM_001329714.1:c.287C>T, NM_001329713.2:c.287C>T, NM_001329713.1:c.287C>T, NM_001329718.2:c.287C>T, NM_001329718.1:c.287C>T, NM_001329717.2:c.287C>T, NM_001329717.1:c.287C>T, NM_001329719.2:c.287C>T, NM_001329719.1:c.287C>T, XM_006711177.2:c.287C>T, XM_006711177.1:c.287C>T, XM_017000393.2:c.287C>T, XM_017000393.1:c.287C>T, NM_001393416.1:c.287C>T, NM_001393415.1:c.287C>T, NM_001393422.1:c.287C>T, NM_001393423.1:c.287C>T, NM_001393418.1:c.287C>T, NM_001393421.1:c.287C>T, NM_001393417.1:c.287C>T, NM_001393419.1:c.287C>T, NM_001393420.1:c.287C>T, XP_006711238.1:p.Thr96Ile, XP_006711237.1:p.Thr96Ile, NP_775780.1:p.Thr96Ile, XP_016855878.1:p.Thr96Ile, XP_024309167.1:p.Thr96Ile, XP_016855875.1:p.Thr96Ile, XP_011507519.1:p.Thr96Ile, XP_016855877.1:p.Thr96Ile, XP_016855879.1:p.Thr96Ile, NP_001316641.1:p.Thr96Ile, NP_001316645.1:p.Thr96Ile, NP_001316644.1:p.Thr96Ile, NP_001316643.1:p.Thr96Ile, NP_001316642.1:p.Thr96Ile, NP_001316647.1:p.Thr96Ile, NP_001316646.1:p.Thr96Ile, NP_001316648.1:p.Thr96Ile, XP_006711240.1:p.Thr96Ile, XP_016855882.1:p.Thr96Ile, NP_001380345.1:p.Thr96Ile, NP_001380344.1:p.Thr96Ile, NP_001380351.1:p.Thr96Ile, NP_001380352.1:p.Thr96Ile, NP_001380347.1:p.Thr96Ile, NP_001380350.1:p.Thr96Ile, NP_001380346.1:p.Thr96Ile, NP_001380348.1:p.Thr96Ile, NP_001380349.1:p.Thr96Ile

                            14.

                            rs1421252262 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              1:179814145 (GRCh38)
                              1:179783280 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:179814144:C:A,NC_000001.11:179814144:C:T
                              Gene:
                              FAM163A (Varview), LOC105371634 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000043/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000001.11:g.179814145C>A, NC_000001.11:g.179814145C>T, NC_000001.10:g.179783280C>A, NC_000001.10:g.179783280C>T, XM_006711175.3:c.460C>A, XM_006711175.3:c.460C>T, XM_006711175.2:c.460C>A, XM_006711175.2:c.460C>T, XM_006711175.1:c.460C>A, XM_006711175.1:c.460C>T, XM_006711174.3:c.460C>A, XM_006711174.3:c.460C>T, XM_006711174.2:c.460C>A, XM_006711174.2:c.460C>T, XM_006711174.1:c.460C>A, XM_006711174.1:c.460C>T, NM_173509.3:c.460C>A, NM_173509.3:c.460C>T, NM_173509.2:c.460C>A, NM_173509.2:c.460C>T, XM_017000389.2:c.460C>A, XM_017000389.2:c.460C>T, XM_017000389.1:c.460C>A, XM_017000389.1:c.460C>T, XM_024453399.2:c.460C>A, XM_024453399.2:c.460C>T, XM_024453399.1:c.460C>A, XM_024453399.1:c.460C>T, XM_017000386.2:c.460C>A, XM_017000386.2:c.460C>T, XM_017000386.1:c.460C>A, XM_017000386.1:c.460C>T, XM_011509217.2:c.460C>A, XM_011509217.2:c.460C>T, XM_011509217.1:c.460C>A, XM_011509217.1:c.460C>T, XM_017000388.2:c.460C>A, XM_017000388.2:c.460C>T, XM_017000388.1:c.460C>A, XM_017000388.1:c.460C>T, XM_017000390.2:c.460C>A, XM_017000390.2:c.460C>T, XM_017000390.1:c.460C>A, XM_017000390.1:c.460C>T, NM_001329712.2:c.460C>A, NM_001329712.2:c.460C>T, NM_001329712.1:c.460C>A, NM_001329712.1:c.460C>T, NM_001329716.2:c.460C>A, NM_001329716.2:c.460C>T, NM_001329716.1:c.460C>A, NM_001329716.1:c.460C>T, NM_001329715.2:c.460C>A, NM_001329715.2:c.460C>T, NM_001329715.1:c.460C>A, NM_001329715.1:c.460C>T, NM_001329714.2:c.460C>A, NM_001329714.2:c.460C>T, NM_001329714.1:c.460C>A, NM_001329714.1:c.460C>T, NM_001329713.2:c.460C>A, NM_001329713.2:c.460C>T, NM_001329713.1:c.460C>A, NM_001329713.1:c.460C>T, NM_001329718.2:c.460C>A, NM_001329718.2:c.460C>T, NM_001329718.1:c.460C>A, NM_001329718.1:c.460C>T, NM_001329717.2:c.460C>A, NM_001329717.2:c.460C>T, NM_001329717.1:c.460C>A, NM_001329717.1:c.460C>T, NM_001329719.2:c.460C>A, NM_001329719.2:c.460C>T, NM_001329719.1:c.460C>A, NM_001329719.1:c.460C>T, XM_006711177.2:c.460C>A, XM_006711177.2:c.460C>T, XM_006711177.1:c.460C>A, XM_006711177.1:c.460C>T, XM_017000393.2:c.460C>A, XM_017000393.2:c.460C>T, XM_017000393.1:c.460C>A, XM_017000393.1:c.460C>T, NM_001393416.1:c.460C>A, NM_001393416.1:c.460C>T, NM_001393415.1:c.460C>A, NM_001393415.1:c.460C>T, NM_001393422.1:c.460C>A, NM_001393422.1:c.460C>T, NM_001393423.1:c.460C>A, NM_001393423.1:c.460C>T, NM_001393418.1:c.460C>A, NM_001393418.1:c.460C>T, NM_001393421.1:c.460C>A, NM_001393421.1:c.460C>T, NM_001393417.1:c.460C>A, NM_001393417.1:c.460C>T, NM_001393419.1:c.460C>A, NM_001393419.1:c.460C>T, NM_001393420.1:c.460C>A, NM_001393420.1:c.460C>T, XP_006711238.1:p.Arg154Ser, XP_006711238.1:p.Arg154Cys, XP_006711237.1:p.Arg154Ser, XP_006711237.1:p.Arg154Cys, NP_775780.1:p.Arg154Ser, NP_775780.1:p.Arg154Cys, XP_016855878.1:p.Arg154Ser, XP_016855878.1:p.Arg154Cys, XP_024309167.1:p.Arg154Ser, XP_024309167.1:p.Arg154Cys, XP_016855875.1:p.Arg154Ser, XP_016855875.1:p.Arg154Cys, XP_011507519.1:p.Arg154Ser, XP_011507519.1:p.Arg154Cys, XP_016855877.1:p.Arg154Ser, XP_016855877.1:p.Arg154Cys, XP_016855879.1:p.Arg154Ser, XP_016855879.1:p.Arg154Cys, NP_001316641.1:p.Arg154Ser, NP_001316641.1:p.Arg154Cys, NP_001316645.1:p.Arg154Ser, NP_001316645.1:p.Arg154Cys, NP_001316644.1:p.Arg154Ser, NP_001316644.1:p.Arg154Cys, NP_001316643.1:p.Arg154Ser, NP_001316643.1:p.Arg154Cys, NP_001316642.1:p.Arg154Ser, NP_001316642.1:p.Arg154Cys, NP_001316647.1:p.Arg154Ser, NP_001316647.1:p.Arg154Cys, NP_001316646.1:p.Arg154Ser, NP_001316646.1:p.Arg154Cys, NP_001316648.1:p.Arg154Ser, NP_001316648.1:p.Arg154Cys, XP_006711240.1:p.Arg154Ser, XP_006711240.1:p.Arg154Cys, XP_016855882.1:p.Arg154Ser, XP_016855882.1:p.Arg154Cys, NP_001380345.1:p.Arg154Ser, NP_001380345.1:p.Arg154Cys, NP_001380344.1:p.Arg154Ser, NP_001380344.1:p.Arg154Cys, NP_001380351.1:p.Arg154Ser, NP_001380351.1:p.Arg154Cys, NP_001380352.1:p.Arg154Ser, NP_001380352.1:p.Arg154Cys, NP_001380347.1:p.Arg154Ser, NP_001380347.1:p.Arg154Cys, NP_001380350.1:p.Arg154Ser, NP_001380350.1:p.Arg154Cys, NP_001380346.1:p.Arg154Ser, NP_001380346.1:p.Arg154Cys, NP_001380348.1:p.Arg154Ser, NP_001380348.1:p.Arg154Cys, NP_001380349.1:p.Arg154Ser, NP_001380349.1:p.Arg154Cys

                              15.

                              rs1420641997 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                1:179814065 (GRCh38)
                                1:179783200 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:179814064:C:G,NC_000001.11:179814064:C:T
                                Gene:
                                FAM163A (Varview), LOC105371634 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.179814065C>G, NC_000001.11:g.179814065C>T, NC_000001.10:g.179783200C>G, NC_000001.10:g.179783200C>T, XM_006711175.3:c.380C>G, XM_006711175.3:c.380C>T, XM_006711175.2:c.380C>G, XM_006711175.2:c.380C>T, XM_006711175.1:c.380C>G, XM_006711175.1:c.380C>T, XM_006711174.3:c.380C>G, XM_006711174.3:c.380C>T, XM_006711174.2:c.380C>G, XM_006711174.2:c.380C>T, XM_006711174.1:c.380C>G, XM_006711174.1:c.380C>T, NM_173509.3:c.380C>G, NM_173509.3:c.380C>T, NM_173509.2:c.380C>G, NM_173509.2:c.380C>T, XM_017000389.2:c.380C>G, XM_017000389.2:c.380C>T, XM_017000389.1:c.380C>G, XM_017000389.1:c.380C>T, XM_024453399.2:c.380C>G, XM_024453399.2:c.380C>T, XM_024453399.1:c.380C>G, XM_024453399.1:c.380C>T, XM_017000386.2:c.380C>G, XM_017000386.2:c.380C>T, XM_017000386.1:c.380C>G, XM_017000386.1:c.380C>T, XM_011509217.2:c.380C>G, XM_011509217.2:c.380C>T, XM_011509217.1:c.380C>G, XM_011509217.1:c.380C>T, XM_017000388.2:c.380C>G, XM_017000388.2:c.380C>T, XM_017000388.1:c.380C>G, XM_017000388.1:c.380C>T, XM_017000390.2:c.380C>G, XM_017000390.2:c.380C>T, XM_017000390.1:c.380C>G, XM_017000390.1:c.380C>T, NM_001329712.2:c.380C>G, NM_001329712.2:c.380C>T, NM_001329712.1:c.380C>G, NM_001329712.1:c.380C>T, NM_001329716.2:c.380C>G, NM_001329716.2:c.380C>T, NM_001329716.1:c.380C>G, NM_001329716.1:c.380C>T, NM_001329715.2:c.380C>G, NM_001329715.2:c.380C>T, NM_001329715.1:c.380C>G, NM_001329715.1:c.380C>T, NM_001329714.2:c.380C>G, NM_001329714.2:c.380C>T, NM_001329714.1:c.380C>G, NM_001329714.1:c.380C>T, NM_001329713.2:c.380C>G, NM_001329713.2:c.380C>T, NM_001329713.1:c.380C>G, NM_001329713.1:c.380C>T, NM_001329718.2:c.380C>G, NM_001329718.2:c.380C>T, NM_001329718.1:c.380C>G, NM_001329718.1:c.380C>T, NM_001329717.2:c.380C>G, NM_001329717.2:c.380C>T, NM_001329717.1:c.380C>G, NM_001329717.1:c.380C>T, NM_001329719.2:c.380C>G, NM_001329719.2:c.380C>T, NM_001329719.1:c.380C>G, NM_001329719.1:c.380C>T, XM_006711177.2:c.380C>G, XM_006711177.2:c.380C>T, XM_006711177.1:c.380C>G, XM_006711177.1:c.380C>T, XM_017000393.2:c.380C>G, XM_017000393.2:c.380C>T, XM_017000393.1:c.380C>G, XM_017000393.1:c.380C>T, NM_001393416.1:c.380C>G, NM_001393416.1:c.380C>T, NM_001393415.1:c.380C>G, NM_001393415.1:c.380C>T, NM_001393422.1:c.380C>G, NM_001393422.1:c.380C>T, NM_001393423.1:c.380C>G, NM_001393423.1:c.380C>T, NM_001393418.1:c.380C>G, NM_001393418.1:c.380C>T, NM_001393421.1:c.380C>G, NM_001393421.1:c.380C>T, NM_001393417.1:c.380C>G, NM_001393417.1:c.380C>T, NM_001393419.1:c.380C>G, NM_001393419.1:c.380C>T, NM_001393420.1:c.380C>G, NM_001393420.1:c.380C>T, XP_006711238.1:p.Thr127Arg, XP_006711238.1:p.Thr127Ile, XP_006711237.1:p.Thr127Arg, XP_006711237.1:p.Thr127Ile, NP_775780.1:p.Thr127Arg, NP_775780.1:p.Thr127Ile, XP_016855878.1:p.Thr127Arg, XP_016855878.1:p.Thr127Ile, XP_024309167.1:p.Thr127Arg, XP_024309167.1:p.Thr127Ile, XP_016855875.1:p.Thr127Arg, XP_016855875.1:p.Thr127Ile, XP_011507519.1:p.Thr127Arg, XP_011507519.1:p.Thr127Ile, XP_016855877.1:p.Thr127Arg, XP_016855877.1:p.Thr127Ile, XP_016855879.1:p.Thr127Arg, XP_016855879.1:p.Thr127Ile, NP_001316641.1:p.Thr127Arg, NP_001316641.1:p.Thr127Ile, NP_001316645.1:p.Thr127Arg, NP_001316645.1:p.Thr127Ile, NP_001316644.1:p.Thr127Arg, NP_001316644.1:p.Thr127Ile, NP_001316643.1:p.Thr127Arg, NP_001316643.1:p.Thr127Ile, NP_001316642.1:p.Thr127Arg, NP_001316642.1:p.Thr127Ile, NP_001316647.1:p.Thr127Arg, NP_001316647.1:p.Thr127Ile, NP_001316646.1:p.Thr127Arg, NP_001316646.1:p.Thr127Ile, NP_001316648.1:p.Thr127Arg, NP_001316648.1:p.Thr127Ile, XP_006711240.1:p.Thr127Arg, XP_006711240.1:p.Thr127Ile, XP_016855882.1:p.Thr127Arg, XP_016855882.1:p.Thr127Ile, NP_001380345.1:p.Thr127Arg, NP_001380345.1:p.Thr127Ile, NP_001380344.1:p.Thr127Arg, NP_001380344.1:p.Thr127Ile, NP_001380351.1:p.Thr127Arg, NP_001380351.1:p.Thr127Ile, NP_001380352.1:p.Thr127Arg, NP_001380352.1:p.Thr127Ile, NP_001380347.1:p.Thr127Arg, NP_001380347.1:p.Thr127Ile, NP_001380350.1:p.Thr127Arg, NP_001380350.1:p.Thr127Ile, NP_001380346.1:p.Thr127Arg, NP_001380346.1:p.Thr127Ile, NP_001380348.1:p.Thr127Arg, NP_001380348.1:p.Thr127Ile, NP_001380349.1:p.Thr127Arg, NP_001380349.1:p.Thr127Ile

                                16.

                                rs1413507741 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:179813805 (GRCh38)
                                  1:179782940 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:179813804:C:T
                                  Gene:
                                  FAM163A (Varview), LOC105371634 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.179813805C>T, NC_000001.10:g.179782940C>T, XM_006711175.3:c.120C>T, XM_006711175.2:c.120C>T, XM_006711175.1:c.120C>T, XM_006711174.3:c.120C>T, XM_006711174.2:c.120C>T, XM_006711174.1:c.120C>T, NM_173509.3:c.120C>T, NM_173509.2:c.120C>T, XM_017000389.2:c.120C>T, XM_017000389.1:c.120C>T, XM_024453399.2:c.120C>T, XM_024453399.1:c.120C>T, XM_017000386.2:c.120C>T, XM_017000386.1:c.120C>T, XM_011509217.2:c.120C>T, XM_011509217.1:c.120C>T, XM_017000388.2:c.120C>T, XM_017000388.1:c.120C>T, XM_017000390.2:c.120C>T, XM_017000390.1:c.120C>T, NM_001329712.2:c.120C>T, NM_001329712.1:c.120C>T, NM_001329716.2:c.120C>T, NM_001329716.1:c.120C>T, NM_001329715.2:c.120C>T, NM_001329715.1:c.120C>T, NM_001329714.2:c.120C>T, NM_001329714.1:c.120C>T, NM_001329713.2:c.120C>T, NM_001329713.1:c.120C>T, NM_001329718.2:c.120C>T, NM_001329718.1:c.120C>T, NM_001329717.2:c.120C>T, NM_001329717.1:c.120C>T, NM_001329719.2:c.120C>T, NM_001329719.1:c.120C>T, XM_006711177.2:c.120C>T, XM_006711177.1:c.120C>T, XM_017000393.2:c.120C>T, XM_017000393.1:c.120C>T, NM_001393416.1:c.120C>T, NM_001393415.1:c.120C>T, NM_001393422.1:c.120C>T, NM_001393423.1:c.120C>T, NM_001393418.1:c.120C>T, NM_001393421.1:c.120C>T, NM_001393417.1:c.120C>T, NM_001393419.1:c.120C>T, NM_001393420.1:c.120C>T

                                  17.

                                  rs1410924556 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:179813868 (GRCh38)
                                    1:179783003 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:179813867:C:T
                                    Gene:
                                    FAM163A (Varview), LOC105371634 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.179813868C>T, NC_000001.10:g.179783003C>T, XM_006711175.3:c.183C>T, XM_006711175.2:c.183C>T, XM_006711175.1:c.183C>T, XM_006711174.3:c.183C>T, XM_006711174.2:c.183C>T, XM_006711174.1:c.183C>T, NM_173509.3:c.183C>T, NM_173509.2:c.183C>T, XM_017000389.2:c.183C>T, XM_017000389.1:c.183C>T, XM_024453399.2:c.183C>T, XM_024453399.1:c.183C>T, XM_017000386.2:c.183C>T, XM_017000386.1:c.183C>T, XM_011509217.2:c.183C>T, XM_011509217.1:c.183C>T, XM_017000388.2:c.183C>T, XM_017000388.1:c.183C>T, XM_017000390.2:c.183C>T, XM_017000390.1:c.183C>T, NM_001329712.2:c.183C>T, NM_001329712.1:c.183C>T, NM_001329716.2:c.183C>T, NM_001329716.1:c.183C>T, NM_001329715.2:c.183C>T, NM_001329715.1:c.183C>T, NM_001329714.2:c.183C>T, NM_001329714.1:c.183C>T, NM_001329713.2:c.183C>T, NM_001329713.1:c.183C>T, NM_001329718.2:c.183C>T, NM_001329718.1:c.183C>T, NM_001329717.2:c.183C>T, NM_001329717.1:c.183C>T, NM_001329719.2:c.183C>T, NM_001329719.1:c.183C>T, XM_006711177.2:c.183C>T, XM_006711177.1:c.183C>T, XM_017000393.2:c.183C>T, XM_017000393.1:c.183C>T, NM_001393416.1:c.183C>T, NM_001393415.1:c.183C>T, NM_001393422.1:c.183C>T, NM_001393423.1:c.183C>T, NM_001393418.1:c.183C>T, NM_001393421.1:c.183C>T, NM_001393417.1:c.183C>T, NM_001393419.1:c.183C>T, NM_001393420.1:c.183C>T

                                    18.

                                    rs1409096482 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      1:179814140 (GRCh38)
                                      1:179783275 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:179814139:C:A
                                      Gene:
                                      FAM163A (Varview), LOC105371634 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.179814140C>A, NC_000001.10:g.179783275C>A, XM_006711175.3:c.455C>A, XM_006711175.2:c.455C>A, XM_006711175.1:c.455C>A, XM_006711174.3:c.455C>A, XM_006711174.2:c.455C>A, XM_006711174.1:c.455C>A, NM_173509.3:c.455C>A, NM_173509.2:c.455C>A, XM_017000389.2:c.455C>A, XM_017000389.1:c.455C>A, XM_024453399.2:c.455C>A, XM_024453399.1:c.455C>A, XM_017000386.2:c.455C>A, XM_017000386.1:c.455C>A, XM_011509217.2:c.455C>A, XM_011509217.1:c.455C>A, XM_017000388.2:c.455C>A, XM_017000388.1:c.455C>A, XM_017000390.2:c.455C>A, XM_017000390.1:c.455C>A, NM_001329712.2:c.455C>A, NM_001329712.1:c.455C>A, NM_001329716.2:c.455C>A, NM_001329716.1:c.455C>A, NM_001329715.2:c.455C>A, NM_001329715.1:c.455C>A, NM_001329714.2:c.455C>A, NM_001329714.1:c.455C>A, NM_001329713.2:c.455C>A, NM_001329713.1:c.455C>A, NM_001329718.2:c.455C>A, NM_001329718.1:c.455C>A, NM_001329717.2:c.455C>A, NM_001329717.1:c.455C>A, NM_001329719.2:c.455C>A, NM_001329719.1:c.455C>A, XM_006711177.2:c.455C>A, XM_006711177.1:c.455C>A, XM_017000393.2:c.455C>A, XM_017000393.1:c.455C>A, NM_001393416.1:c.455C>A, NM_001393415.1:c.455C>A, NM_001393422.1:c.455C>A, NM_001393423.1:c.455C>A, NM_001393418.1:c.455C>A, NM_001393421.1:c.455C>A, NM_001393417.1:c.455C>A, NM_001393419.1:c.455C>A, NM_001393420.1:c.455C>A, XP_006711238.1:p.Ser152Tyr, XP_006711237.1:p.Ser152Tyr, NP_775780.1:p.Ser152Tyr, XP_016855878.1:p.Ser152Tyr, XP_024309167.1:p.Ser152Tyr, XP_016855875.1:p.Ser152Tyr, XP_011507519.1:p.Ser152Tyr, XP_016855877.1:p.Ser152Tyr, XP_016855879.1:p.Ser152Tyr, NP_001316641.1:p.Ser152Tyr, NP_001316645.1:p.Ser152Tyr, NP_001316644.1:p.Ser152Tyr, NP_001316643.1:p.Ser152Tyr, NP_001316642.1:p.Ser152Tyr, NP_001316647.1:p.Ser152Tyr, NP_001316646.1:p.Ser152Tyr, NP_001316648.1:p.Ser152Tyr, XP_006711240.1:p.Ser152Tyr, XP_016855882.1:p.Ser152Tyr, NP_001380345.1:p.Ser152Tyr, NP_001380344.1:p.Ser152Tyr, NP_001380351.1:p.Ser152Tyr, NP_001380352.1:p.Ser152Tyr, NP_001380347.1:p.Ser152Tyr, NP_001380350.1:p.Ser152Tyr, NP_001380346.1:p.Ser152Tyr, NP_001380348.1:p.Ser152Tyr, NP_001380349.1:p.Ser152Tyr

                                      19.

                                      rs1403683637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:179813149 (GRCh38)
                                        1:179782284 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:179813148:C:T
                                        Gene:
                                        FAM163A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.179813149C>T, NC_000001.10:g.179782284C>T, XM_006711175.3:c.52C>T, XM_006711175.2:c.52C>T, XM_006711175.1:c.52C>T, XM_006711174.3:c.52C>T, XM_006711174.2:c.52C>T, XM_006711174.1:c.52C>T, NM_173509.3:c.52C>T, NM_173509.2:c.52C>T, XM_017000389.2:c.52C>T, XM_017000389.1:c.52C>T, XM_024453399.2:c.52C>T, XM_024453399.1:c.52C>T, XM_017000386.2:c.52C>T, XM_017000386.1:c.52C>T, XM_011509217.2:c.52C>T, XM_011509217.1:c.52C>T, XM_017000388.2:c.52C>T, XM_017000388.1:c.52C>T, XM_017000390.2:c.52C>T, XM_017000390.1:c.52C>T, NM_001329712.2:c.52C>T, NM_001329712.1:c.52C>T, NM_001329716.2:c.52C>T, NM_001329716.1:c.52C>T, NM_001329715.2:c.52C>T, NM_001329715.1:c.52C>T, NM_001329714.2:c.52C>T, NM_001329714.1:c.52C>T, NM_001329713.2:c.52C>T, NM_001329713.1:c.52C>T, NM_001329718.2:c.52C>T, NM_001329718.1:c.52C>T, NM_001329717.2:c.52C>T, NM_001329717.1:c.52C>T, NM_001329719.2:c.52C>T, NM_001329719.1:c.52C>T, XM_006711177.2:c.52C>T, XM_006711177.1:c.52C>T, XM_017000393.2:c.52C>T, XM_017000393.1:c.52C>T, NM_001393416.1:c.52C>T, NM_001393415.1:c.52C>T, NM_001393422.1:c.52C>T, NM_001393423.1:c.52C>T, NM_001393418.1:c.52C>T, NM_001393421.1:c.52C>T, NM_001393417.1:c.52C>T, NM_001393419.1:c.52C>T, NM_001393420.1:c.52C>T, XP_006711238.1:p.Leu18Phe, XP_006711237.1:p.Leu18Phe, NP_775780.1:p.Leu18Phe, XP_016855878.1:p.Leu18Phe, XP_024309167.1:p.Leu18Phe, XP_016855875.1:p.Leu18Phe, XP_011507519.1:p.Leu18Phe, XP_016855877.1:p.Leu18Phe, XP_016855879.1:p.Leu18Phe, NP_001316641.1:p.Leu18Phe, NP_001316645.1:p.Leu18Phe, NP_001316644.1:p.Leu18Phe, NP_001316643.1:p.Leu18Phe, NP_001316642.1:p.Leu18Phe, NP_001316647.1:p.Leu18Phe, NP_001316646.1:p.Leu18Phe, NP_001316648.1:p.Leu18Phe, XP_006711240.1:p.Leu18Phe, XP_016855882.1:p.Leu18Phe, NP_001380345.1:p.Leu18Phe, NP_001380344.1:p.Leu18Phe, NP_001380351.1:p.Leu18Phe, NP_001380352.1:p.Leu18Phe, NP_001380347.1:p.Leu18Phe, NP_001380350.1:p.Leu18Phe, NP_001380346.1:p.Leu18Phe, NP_001380348.1:p.Leu18Phe, NP_001380349.1:p.Leu18Phe

                                        20.

                                        rs1402848182 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:179814047 (GRCh38)
                                          1:179783182 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:179814046:G:A
                                          Gene:
                                          FAM163A (Varview), LOC105371634 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.179814047G>A, NC_000001.10:g.179783182G>A, XM_006711175.3:c.362G>A, XM_006711175.2:c.362G>A, XM_006711175.1:c.362G>A, XM_006711174.3:c.362G>A, XM_006711174.2:c.362G>A, XM_006711174.1:c.362G>A, NM_173509.3:c.362G>A, NM_173509.2:c.362G>A, XM_017000389.2:c.362G>A, XM_017000389.1:c.362G>A, XM_024453399.2:c.362G>A, XM_024453399.1:c.362G>A, XM_017000386.2:c.362G>A, XM_017000386.1:c.362G>A, XM_011509217.2:c.362G>A, XM_011509217.1:c.362G>A, XM_017000388.2:c.362G>A, XM_017000388.1:c.362G>A, XM_017000390.2:c.362G>A, XM_017000390.1:c.362G>A, NM_001329712.2:c.362G>A, NM_001329712.1:c.362G>A, NM_001329716.2:c.362G>A, NM_001329716.1:c.362G>A, NM_001329715.2:c.362G>A, NM_001329715.1:c.362G>A, NM_001329714.2:c.362G>A, NM_001329714.1:c.362G>A, NM_001329713.2:c.362G>A, NM_001329713.1:c.362G>A, NM_001329718.2:c.362G>A, NM_001329718.1:c.362G>A, NM_001329717.2:c.362G>A, NM_001329717.1:c.362G>A, NM_001329719.2:c.362G>A, NM_001329719.1:c.362G>A, XM_006711177.2:c.362G>A, XM_006711177.1:c.362G>A, XM_017000393.2:c.362G>A, XM_017000393.1:c.362G>A, NM_001393416.1:c.362G>A, NM_001393415.1:c.362G>A, NM_001393422.1:c.362G>A, NM_001393423.1:c.362G>A, NM_001393418.1:c.362G>A, NM_001393421.1:c.362G>A, NM_001393417.1:c.362G>A, NM_001393419.1:c.362G>A, NM_001393420.1:c.362G>A, XP_006711238.1:p.Arg121Lys, XP_006711237.1:p.Arg121Lys, NP_775780.1:p.Arg121Lys, XP_016855878.1:p.Arg121Lys, XP_024309167.1:p.Arg121Lys, XP_016855875.1:p.Arg121Lys, XP_011507519.1:p.Arg121Lys, XP_016855877.1:p.Arg121Lys, XP_016855879.1:p.Arg121Lys, NP_001316641.1:p.Arg121Lys, NP_001316645.1:p.Arg121Lys, NP_001316644.1:p.Arg121Lys, NP_001316643.1:p.Arg121Lys, NP_001316642.1:p.Arg121Lys, NP_001316647.1:p.Arg121Lys, NP_001316646.1:p.Arg121Lys, NP_001316648.1:p.Arg121Lys, XP_006711240.1:p.Arg121Lys, XP_016855882.1:p.Arg121Lys, NP_001380345.1:p.Arg121Lys, NP_001380344.1:p.Arg121Lys, NP_001380351.1:p.Arg121Lys, NP_001380352.1:p.Arg121Lys, NP_001380347.1:p.Arg121Lys, NP_001380350.1:p.Arg121Lys, NP_001380346.1:p.Arg121Lys, NP_001380348.1:p.Arg121Lys, NP_001380349.1:p.Arg121Lys

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