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Items: 1 to 20 of 1239

1.

rs1491047841 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AATA [Show Flanks]
    Chromosome:
    8:106713943 (GRCh38)
    8:107726172 (GRCh37)
    Canonical SPDI:
    NC_000008.11:106713943:A:AAATA
    Gene:
    OXR1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
    HGVS:
    NC_000008.11:g.106713944_106713945insAATA, NC_000008.10:g.107726172_107726173insAATA, NM_181354.4:c.1894_1895insAATA, NM_018002.3:c.1915_1916insAATA, XM_017013589.3:c.1894_1895insAATA, XM_017013589.2:c.1894_1895insAATA, XM_017013589.1:c.1894_1895insAATA, XM_006716595.3:c.1918_1919insAATA, XM_006716595.2:c.1918_1919insAATA, XM_006716595.1:c.1918_1919insAATA, XM_017013593.3:c.1651_1652insAATA, XM_017013593.2:c.1651_1652insAATA, XM_017013593.1:c.1651_1652insAATA, NM_001198533.2:c.1915_1916insAATA, NM_001198533.1:c.1915_1916insAATA, XM_017013591.2:c.1708_1709insAATA, XM_017013591.1:c.1708_1709insAATA, XM_017013592.2:c.1705_1706insAATA, XM_017013592.1:c.1705_1706insAATA, XM_017013590.2:c.1714_1715insAATA, XM_017013590.1:c.1714_1715insAATA, XR_001745547.2:n.2017_2018insAATA, XR_001745547.1:n.2012_2013insAATA, NM_001198532.1:c.1918_1919insAATA, XM_047421919.1:c.1708_1709insAATA, XM_047421920.1:c.1705_1706insAATA, XM_047421918.1:c.1714_1715insAATA, XM_047421921.1:c.1198_1199insAATA, XM_047421922.1:c.1198_1199insAATA, XR_007060735.1:n.2073_2074insAATA, NP_851999.2:p.Ile632fs, NP_060472.2:p.Ile639fs, XP_016869078.1:p.Ile632fs, XP_006716658.1:p.Ile640fs, XP_016869082.1:p.Ile551fs, NP_001185462.1:p.Ile639fs, XP_016869080.1:p.Ile570fs, XP_016869081.1:p.Ile569fs, XP_016869079.1:p.Ile572fs, NP_001185461.1:p.Ile640fs, XP_047277875.1:p.Ile570fs, XP_047277876.1:p.Ile569fs, XP_047277874.1:p.Ile572fs, XP_047277877.1:p.Ile400fs, XP_047277878.1:p.Ile400fs

    2.

    rs1489703424 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      8:106739482 (GRCh38)
      8:107751710 (GRCh37)
      Canonical SPDI:
      NC_000008.11:106739481:T:C
      Gene:
      OXR1 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000008.11:g.106739482T>C, NC_000008.10:g.107751710T>C, NM_181354.4:c.1960T>C, NM_018002.3:c.1981T>C, XM_017013589.3:c.2041T>C, XM_017013589.2:c.2041T>C, XM_017013589.1:c.2041T>C, XM_006716595.3:c.1984T>C, XM_006716595.2:c.1984T>C, XM_006716595.1:c.1984T>C, XM_017013593.3:c.1798T>C, XM_017013593.2:c.1798T>C, XM_017013593.1:c.1798T>C, NM_001198533.2:c.2062T>C, NM_001198533.1:c.2062T>C, XM_017013591.2:c.1855T>C, XM_017013591.1:c.1855T>C, XM_017013592.2:c.1852T>C, XM_017013592.1:c.1852T>C, XM_017013590.2:c.1861T>C, XM_017013590.1:c.1861T>C, XR_001745547.2:n.2202T>C, XR_001745547.1:n.2197T>C, NM_001198532.1:c.2065T>C, XM_047421919.1:c.1774T>C, XM_047421920.1:c.1771T>C, XM_047421918.1:c.1780T>C, XM_047421921.1:c.1345T>C, XM_047421922.1:c.1264T>C, NM_001198534.1:c.172T>C, NM_001198535.1:c.91T>C, XR_007060735.1:n.2258T>C, NP_851999.2:p.Ser654Pro, NP_060472.2:p.Ser661Pro, XP_016869078.1:p.Ser681Pro, XP_006716658.1:p.Ser662Pro, XP_016869082.1:p.Ser600Pro, NP_001185462.1:p.Ser688Pro, XP_016869080.1:p.Ser619Pro, XP_016869081.1:p.Ser618Pro, XP_016869079.1:p.Ser621Pro, NP_001185461.1:p.Ser689Pro, XP_047277875.1:p.Ser592Pro, XP_047277876.1:p.Ser591Pro, XP_047277874.1:p.Ser594Pro, XP_047277877.1:p.Ser449Pro, XP_047277878.1:p.Ser422Pro, NP_001185463.1:p.Ser58Pro, NP_001185464.1:p.Ser31Pro

      3.

      rs1489401734 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        8:106706475 (GRCh38)
        8:107718703 (GRCh37)
        Canonical SPDI:
        NC_000008.11:106706474:A:G,NC_000008.11:106706474:A:T
        Gene:
        OXR1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000008.11:g.106706475A>G, NC_000008.11:g.106706475A>T, NC_000008.10:g.107718703A>G, NC_000008.10:g.107718703A>T, NM_181354.4:c.933A>G, NM_181354.4:c.933A>T, NM_018002.3:c.954A>G, NM_018002.3:c.954A>T, XM_017013589.3:c.933A>G, XM_017013589.3:c.933A>T, XM_017013589.2:c.933A>G, XM_017013589.2:c.933A>T, XM_017013589.1:c.933A>G, XM_017013589.1:c.933A>T, XM_006716595.3:c.957A>G, XM_006716595.3:c.957A>T, XM_006716595.2:c.957A>G, XM_006716595.2:c.957A>T, XM_006716595.1:c.957A>G, XM_006716595.1:c.957A>T, XM_017013593.3:c.690A>G, XM_017013593.3:c.690A>T, XM_017013593.2:c.690A>G, XM_017013593.2:c.690A>T, XM_017013593.1:c.690A>G, XM_017013593.1:c.690A>T, NM_001198533.2:c.954A>G, NM_001198533.2:c.954A>T, NM_001198533.1:c.954A>G, NM_001198533.1:c.954A>T, XM_017013591.2:c.747A>G, XM_017013591.2:c.747A>T, XM_017013591.1:c.747A>G, XM_017013591.1:c.747A>T, XM_017013592.2:c.744A>G, XM_017013592.2:c.744A>T, XM_017013592.1:c.744A>G, XM_017013592.1:c.744A>T, XM_017013590.2:c.753A>G, XM_017013590.2:c.753A>T, XM_017013590.1:c.753A>G, XM_017013590.1:c.753A>T, XR_001745547.2:n.1056A>G, XR_001745547.2:n.1056A>T, XR_001745547.1:n.1051A>G, XR_001745547.1:n.1051A>T, NM_001198532.1:c.957A>G, NM_001198532.1:c.957A>T, XM_047421919.1:c.747A>G, XM_047421919.1:c.747A>T, XM_047421920.1:c.744A>G, XM_047421920.1:c.744A>T, XM_047421918.1:c.753A>G, XM_047421918.1:c.753A>T, XM_047421921.1:c.237A>G, XM_047421921.1:c.237A>T, XM_047421922.1:c.237A>G, XM_047421922.1:c.237A>T, XR_007060735.1:n.1112A>G, XR_007060735.1:n.1112A>T

        4.

        rs1489335470 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:106684344 (GRCh38)
          8:107696572 (GRCh37)
          Canonical SPDI:
          NC_000008.11:106684343:A:G
          Gene:
          OXR1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0./0 (GnomAD)
          G=0.000004/1 (TOPMED)
          G=0.000008/2 (GnomAD_exomes)
          HGVS:

          5.

          rs1488415535 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            8:106706847 (GRCh38)
            8:107719075 (GRCh37)
            Canonical SPDI:
            NC_000008.11:106706846:T:A
            Gene:
            OXR1 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.106706847T>A, NC_000008.10:g.107719075T>A, NM_181354.4:c.1305T>A, NM_018002.3:c.1326T>A, XM_017013589.3:c.1305T>A, XM_017013589.2:c.1305T>A, XM_017013589.1:c.1305T>A, XM_006716595.3:c.1329T>A, XM_006716595.2:c.1329T>A, XM_006716595.1:c.1329T>A, XM_017013593.3:c.1062T>A, XM_017013593.2:c.1062T>A, XM_017013593.1:c.1062T>A, NM_001198533.2:c.1326T>A, NM_001198533.1:c.1326T>A, XM_017013591.2:c.1119T>A, XM_017013591.1:c.1119T>A, XM_017013592.2:c.1116T>A, XM_017013592.1:c.1116T>A, XM_017013590.2:c.1125T>A, XM_017013590.1:c.1125T>A, XR_001745547.2:n.1428T>A, XR_001745547.1:n.1423T>A, NM_001198532.1:c.1329T>A, XM_047421919.1:c.1119T>A, XM_047421920.1:c.1116T>A, XM_047421918.1:c.1125T>A, XM_047421921.1:c.609T>A, XM_047421922.1:c.609T>A, XR_007060735.1:n.1484T>A, NP_851999.2:p.Ser435Arg, NP_060472.2:p.Ser442Arg, XP_016869078.1:p.Ser435Arg, XP_006716658.1:p.Ser443Arg, XP_016869082.1:p.Ser354Arg, NP_001185462.1:p.Ser442Arg, XP_016869080.1:p.Ser373Arg, XP_016869081.1:p.Ser372Arg, XP_016869079.1:p.Ser375Arg, NP_001185461.1:p.Ser443Arg, XP_047277875.1:p.Ser373Arg, XP_047277876.1:p.Ser372Arg, XP_047277874.1:p.Ser375Arg, XP_047277877.1:p.Ser203Arg, XP_047277878.1:p.Ser203Arg

            6.

            rs1488196008 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:106702993 (GRCh38)
              8:107715221 (GRCh37)
              Canonical SPDI:
              NC_000008.11:106702992:T:C
              Gene:
              OXR1 (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:
              C=0.000056/2 (ALFA)
              C=0.000014/2 (GnomAD)
              C=0.000049/13 (TOPMED)
              HGVS:
              NC_000008.11:g.106702993T>C, NC_000008.10:g.107715221T>C, NM_181354.4:c.742T>C, NM_018002.3:c.763T>C, XM_017013589.3:c.742T>C, XM_017013589.2:c.742T>C, XM_017013589.1:c.742T>C, XM_006716595.3:c.766T>C, XM_006716595.2:c.766T>C, XM_006716595.1:c.766T>C, XM_017013593.3:c.499T>C, XM_017013593.2:c.499T>C, XM_017013593.1:c.499T>C, NM_001198533.2:c.763T>C, NM_001198533.1:c.763T>C, XM_017013591.2:c.556T>C, XM_017013591.1:c.556T>C, XM_017013592.2:c.553T>C, XM_017013592.1:c.553T>C, XM_017013590.2:c.562T>C, XM_017013590.1:c.562T>C, XR_001745547.2:n.865T>C, XR_001745547.1:n.860T>C, NM_001198532.1:c.766T>C, XM_047421919.1:c.556T>C, XM_047421920.1:c.553T>C, XM_047421918.1:c.562T>C, XR_007060735.1:n.921T>C, NP_851999.2:p.Cys248Arg, NP_060472.2:p.Cys255Arg, XP_016869078.1:p.Cys248Arg, XP_006716658.1:p.Cys256Arg, XP_016869082.1:p.Cys167Arg, NP_001185462.1:p.Cys255Arg, XP_016869080.1:p.Cys186Arg, XP_016869081.1:p.Cys185Arg, XP_016869079.1:p.Cys188Arg, NP_001185461.1:p.Cys256Arg, XP_047277875.1:p.Cys186Arg, XP_047277876.1:p.Cys185Arg, XP_047277874.1:p.Cys188Arg

              7.

              rs1488078969 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                8:106270209 (GRCh38)
                8:107282437 (GRCh37)
                Canonical SPDI:
                NC_000008.11:106270208:A:C,NC_000008.11:106270208:A:G,NC_000008.11:106270208:A:T
                Gene:
                OXR1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1488023631 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  8:106713962 (GRCh38)
                  8:107726190 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:106713961:C:A
                  Gene:
                  OXR1 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.106713962C>A, NC_000008.10:g.107726190C>A, NM_181354.4:c.1912C>A, NM_018002.3:c.1933C>A, XM_017013589.3:c.1912C>A, XM_017013589.2:c.1912C>A, XM_017013589.1:c.1912C>A, XM_006716595.3:c.1936C>A, XM_006716595.2:c.1936C>A, XM_006716595.1:c.1936C>A, XM_017013593.3:c.1669C>A, XM_017013593.2:c.1669C>A, XM_017013593.1:c.1669C>A, NM_001198533.2:c.1933C>A, NM_001198533.1:c.1933C>A, XM_017013591.2:c.1726C>A, XM_017013591.1:c.1726C>A, XM_017013592.2:c.1723C>A, XM_017013592.1:c.1723C>A, XM_017013590.2:c.1732C>A, XM_017013590.1:c.1732C>A, XR_001745547.2:n.2035C>A, XR_001745547.1:n.2030C>A, NM_001198532.1:c.1936C>A, XM_047421919.1:c.1726C>A, XM_047421920.1:c.1723C>A, XM_047421918.1:c.1732C>A, XM_047421921.1:c.1216C>A, XM_047421922.1:c.1216C>A, XR_007060735.1:n.2091C>A, NP_851999.2:p.Gln638Lys, NP_060472.2:p.Gln645Lys, XP_016869078.1:p.Gln638Lys, XP_006716658.1:p.Gln646Lys, XP_016869082.1:p.Gln557Lys, NP_001185462.1:p.Gln645Lys, XP_016869080.1:p.Gln576Lys, XP_016869081.1:p.Gln575Lys, XP_016869079.1:p.Gln578Lys, NP_001185461.1:p.Gln646Lys, XP_047277875.1:p.Gln576Lys, XP_047277876.1:p.Gln575Lys, XP_047277874.1:p.Gln578Lys, XP_047277877.1:p.Gln406Lys, XP_047277878.1:p.Gln406Lys

                  9.

                  rs1486794655 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:106752505 (GRCh38)
                    8:107764733 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:106752504:A:G
                    Gene:
                    OXR1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1486194401 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:106751989 (GRCh38)
                      8:107764217 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:106751988:C:T
                      Gene:
                      OXR1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1485871443 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        8:106519109 (GRCh38)
                        8:107531337 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:106519108:A:T
                        Gene:
                        OXR1 (Varview), OXR1-AS1 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_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:

                        12.

                        rs1485478585 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:106752608 (GRCh38)
                          8:107764836 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:106752607:T:C
                          Gene:
                          OXR1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1485253549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:106751577 (GRCh38)
                            8:107763805 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:106751576:A:G
                            Gene:
                            OXR1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1484855941 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              8:106751913 (GRCh38)
                              8:107764141 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:106751912:A:T
                              Gene:
                              OXR1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1484533382 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:106692852 (GRCh38)
                                8:107705080 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:106692851:A:G
                                Gene:
                                OXR1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.106692852A>G, NC_000008.10:g.107705080A>G, NM_181354.4:c.629A>G, NM_018002.3:c.650A>G, XM_017013589.3:c.629A>G, XM_017013589.2:c.629A>G, XM_017013589.1:c.629A>G, XM_006716595.3:c.653A>G, XM_006716595.2:c.653A>G, XM_006716595.1:c.653A>G, XM_017013593.3:c.386A>G, XM_017013593.2:c.386A>G, XM_017013593.1:c.386A>G, NM_001198533.2:c.650A>G, NM_001198533.1:c.650A>G, XM_017013591.2:c.443A>G, XM_017013591.1:c.443A>G, XM_017013592.2:c.440A>G, XM_017013592.1:c.440A>G, XM_017013590.2:c.449A>G, XM_017013590.1:c.449A>G, XR_001745547.2:n.752A>G, XR_001745547.1:n.747A>G, NM_001198532.1:c.653A>G, XM_047421919.1:c.443A>G, XM_047421920.1:c.440A>G, XM_047421918.1:c.449A>G, XM_047421921.1:c.118A>G, XM_047421922.1:c.118A>G, XR_007060735.1:n.808A>G, NP_851999.2:p.Asn210Ser, NP_060472.2:p.Asn217Ser, XP_016869078.1:p.Asn210Ser, XP_006716658.1:p.Asn218Ser, XP_016869082.1:p.Asn129Ser, NP_001185462.1:p.Asn217Ser, XP_016869080.1:p.Asn148Ser, XP_016869081.1:p.Asn147Ser, XP_016869079.1:p.Asn150Ser, NP_001185461.1:p.Asn218Ser, XP_047277875.1:p.Asn148Ser, XP_047277876.1:p.Asn147Ser, XP_047277874.1:p.Asn150Ser, XP_047277877.1:p.Ile40Val, XP_047277878.1:p.Ile40Val

                                16.

                                rs1484497226 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:106706631 (GRCh38)
                                  8:107718859 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:106706630:G:A
                                  Gene:
                                  OXR1 (Varview)
                                  Functional Consequence:
                                  synonymous_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=0.000007/1 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1484446998 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:106750937 (GRCh38)
                                    8:107763165 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:106750936:A:T
                                    Gene:
                                    OXR1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.106750937A>T, NC_000008.10:g.107763165A>T, NM_181354.4:c.2516A>T, NM_018002.3:c.2537A>T, XM_017013589.3:c.2597A>T, XM_017013589.2:c.2597A>T, XM_017013589.1:c.2597A>T, XM_006716595.3:c.2540A>T, XM_006716595.2:c.2540A>T, XM_006716595.1:c.2540A>T, XM_017013593.3:c.2354A>T, XM_017013593.2:c.2354A>T, XM_017013593.1:c.2354A>T, NM_001198533.2:c.2618A>T, NM_001198533.1:c.2618A>T, XM_017013591.2:c.2411A>T, XM_017013591.1:c.2411A>T, XM_017013592.2:c.2408A>T, XM_017013592.1:c.2408A>T, XM_017013590.2:c.2417A>T, XM_017013590.1:c.2417A>T, NM_001198532.1:c.2621A>T, XM_047421919.1:c.2330A>T, XM_047421920.1:c.2327A>T, XM_047421918.1:c.2336A>T, XM_047421921.1:c.1901A>T, XM_047421922.1:c.1820A>T, NM_001198534.1:c.728A>T, NM_001198535.1:c.647A>T, NP_851999.2:p.Glu839Val, NP_060472.2:p.Glu846Val, XP_016869078.1:p.Glu866Val, XP_006716658.1:p.Glu847Val, XP_016869082.1:p.Glu785Val, NP_001185462.1:p.Glu873Val, XP_016869080.1:p.Glu804Val, XP_016869081.1:p.Glu803Val, XP_016869079.1:p.Glu806Val, NP_001185461.1:p.Glu874Val, XP_047277875.1:p.Glu777Val, XP_047277876.1:p.Glu776Val, XP_047277874.1:p.Glu779Val, XP_047277877.1:p.Glu634Val, XP_047277878.1:p.Glu607Val, NP_001185463.1:p.Glu243Val, NP_001185464.1:p.Glu216Val

                                    18.

                                    rs1484249052 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:106752349 (GRCh38)
                                      8:107764577 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:106752348:A:G
                                      Gene:
                                      OXR1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1484028990 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:106270241 (GRCh38)
                                        8:107282469 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:106270240:G:A
                                        Gene:
                                        OXR1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1483984817 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          8:106706833 (GRCh38)
                                          8:107719061 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:106706832:G:A,NC_000008.11:106706832:G:C
                                          Gene:
                                          OXR1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (GnomAD_exomes)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.106706833G>A, NC_000008.11:g.106706833G>C, NC_000008.10:g.107719061G>A, NC_000008.10:g.107719061G>C, NM_181354.4:c.1291G>A, NM_181354.4:c.1291G>C, NM_018002.3:c.1312G>A, NM_018002.3:c.1312G>C, XM_017013589.3:c.1291G>A, XM_017013589.3:c.1291G>C, XM_017013589.2:c.1291G>A, XM_017013589.2:c.1291G>C, XM_017013589.1:c.1291G>A, XM_017013589.1:c.1291G>C, XM_006716595.3:c.1315G>A, XM_006716595.3:c.1315G>C, XM_006716595.2:c.1315G>A, XM_006716595.2:c.1315G>C, XM_006716595.1:c.1315G>A, XM_006716595.1:c.1315G>C, XM_017013593.3:c.1048G>A, XM_017013593.3:c.1048G>C, XM_017013593.2:c.1048G>A, XM_017013593.2:c.1048G>C, XM_017013593.1:c.1048G>A, XM_017013593.1:c.1048G>C, NM_001198533.2:c.1312G>A, NM_001198533.2:c.1312G>C, NM_001198533.1:c.1312G>A, NM_001198533.1:c.1312G>C, XM_017013591.2:c.1105G>A, XM_017013591.2:c.1105G>C, XM_017013591.1:c.1105G>A, XM_017013591.1:c.1105G>C, XM_017013592.2:c.1102G>A, XM_017013592.2:c.1102G>C, XM_017013592.1:c.1102G>A, XM_017013592.1:c.1102G>C, XM_017013590.2:c.1111G>A, XM_017013590.2:c.1111G>C, XM_017013590.1:c.1111G>A, XM_017013590.1:c.1111G>C, XR_001745547.2:n.1414G>A, XR_001745547.2:n.1414G>C, XR_001745547.1:n.1409G>A, XR_001745547.1:n.1409G>C, NM_001198532.1:c.1315G>A, NM_001198532.1:c.1315G>C, XM_047421919.1:c.1105G>A, XM_047421919.1:c.1105G>C, XM_047421920.1:c.1102G>A, XM_047421920.1:c.1102G>C, XM_047421918.1:c.1111G>A, XM_047421918.1:c.1111G>C, XM_047421921.1:c.595G>A, XM_047421921.1:c.595G>C, XM_047421922.1:c.595G>A, XM_047421922.1:c.595G>C, XR_007060735.1:n.1470G>A, XR_007060735.1:n.1470G>C, NP_851999.2:p.Glu431Lys, NP_851999.2:p.Glu431Gln, NP_060472.2:p.Glu438Lys, NP_060472.2:p.Glu438Gln, XP_016869078.1:p.Glu431Lys, XP_016869078.1:p.Glu431Gln, XP_006716658.1:p.Glu439Lys, XP_006716658.1:p.Glu439Gln, XP_016869082.1:p.Glu350Lys, XP_016869082.1:p.Glu350Gln, NP_001185462.1:p.Glu438Lys, NP_001185462.1:p.Glu438Gln, XP_016869080.1:p.Glu369Lys, XP_016869080.1:p.Glu369Gln, XP_016869081.1:p.Glu368Lys, XP_016869081.1:p.Glu368Gln, XP_016869079.1:p.Glu371Lys, XP_016869079.1:p.Glu371Gln, NP_001185461.1:p.Glu439Lys, NP_001185461.1:p.Glu439Gln, XP_047277875.1:p.Glu369Lys, XP_047277875.1:p.Glu369Gln, XP_047277876.1:p.Glu368Lys, XP_047277876.1:p.Glu368Gln, XP_047277874.1:p.Glu371Lys, XP_047277874.1:p.Glu371Gln, XP_047277877.1:p.Glu199Lys, XP_047277877.1:p.Glu199Gln, XP_047277878.1:p.Glu199Lys, XP_047277878.1:p.Glu199Gln

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