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Items: 1 to 20 of 226

1.

rs1488431543 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    1:1787404 (GRCh38)
    1:1718843 (GRCh37)
    Canonical SPDI:
    NC_000001.11:1787403:C:G
    Gene:
    GNB1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.1787404C>G, NC_000001.10:g.1718843C>G, NG_047052.1:g.108714G>C, NM_002074.5:c.950G>C, NM_002074.4:c.950G>C, NM_002074.3:c.950G>C, NM_001282539.1:c.950G>C, NM_001282539.2:c.950G>C, NM_001282538.1:c.650G>C, NM_001282538.2:c.650G>C, XM_017001060.3:c.950G>C, XM_017001060.2:c.950G>C, XM_017001060.1:c.950G>C, XM_017001061.3:c.950G>C, XM_017001061.2:c.950G>C, XM_017001061.1:c.950G>C, XM_017001059.3:c.950G>C, XM_017001059.2:c.950G>C, XM_017001059.1:c.950G>C, XM_024446495.2:c.950G>C, XM_024446495.1:c.950G>C, XM_047418057.1:c.950G>C, XM_047418046.1:c.950G>C, XM_047418050.1:c.950G>C, XM_047418054.1:c.950G>C, XM_047418044.1:c.950G>C, XM_047418059.1:c.950G>C, XM_047418058.1:c.950G>C, XM_047418061.1:c.950G>C, XM_047418045.1:c.950G>C, XM_047418042.1:c.950G>C, XM_047418071.1:c.950G>C, XM_047418056.1:c.950G>C, XM_047418060.1:c.950G>C, XM_047418069.1:c.950G>C, XM_047418049.1:c.950G>C, XM_047418070.1:c.950G>C, XM_047418073.1:c.911G>C, XM_047418062.1:c.950G>C, XM_047418063.1:c.950G>C, XM_047418043.1:c.950G>C, XM_047418067.1:c.950G>C, XM_047418072.1:c.911G>C, XM_047418055.1:c.950G>C, XM_047418076.1:c.911G>C, XM_047418078.1:c.911G>C, XM_047418068.1:c.950G>C, XM_047418074.1:c.911G>C, NP_002065.1:p.Cys317Ser, NP_001269468.1:p.Cys317Ser, NP_001269467.1:p.Cys217Ser, XP_016856549.1:p.Cys317Ser, XP_016856550.1:p.Cys317Ser, XP_016856548.1:p.Cys317Ser, XP_024302263.1:p.Cys317Ser, XP_047274013.1:p.Cys317Ser, XP_047274002.1:p.Cys317Ser, XP_047274006.1:p.Cys317Ser, XP_047274010.1:p.Cys317Ser, XP_047274000.1:p.Cys317Ser, XP_047274015.1:p.Cys317Ser, XP_047274014.1:p.Cys317Ser, XP_047274017.1:p.Cys317Ser, XP_047274001.1:p.Cys317Ser, XP_047273998.1:p.Cys317Ser, XP_047274027.1:p.Cys317Ser, XP_047274012.1:p.Cys317Ser, XP_047274016.1:p.Cys317Ser, XP_047274025.1:p.Cys317Ser, XP_047274005.1:p.Cys317Ser, XP_047274026.1:p.Cys317Ser, XP_047274029.1:p.Cys304Ser, XP_047274018.1:p.Cys317Ser, XP_047274019.1:p.Cys317Ser, XP_047273999.1:p.Cys317Ser, XP_047274023.1:p.Cys317Ser, XP_047274028.1:p.Cys304Ser, XP_047274011.1:p.Cys317Ser, XP_047274032.1:p.Cys304Ser, XP_047274034.1:p.Cys304Ser, XP_047274024.1:p.Cys317Ser, XP_047274030.1:p.Cys304Ser

    2.

    rs1474839183 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:1804529 (GRCh38)
      1:1735968 (GRCh37)
      Canonical SPDI:
      NC_000001.11:1804528:G:A
      Gene:
      GNB1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.1804529G>A, NC_000001.10:g.1735968G>A, NG_047052.1:g.91589C>T, NM_002074.5:c.320C>T, NM_002074.4:c.320C>T, NM_002074.3:c.320C>T, NM_001282539.1:c.320C>T, NM_001282539.2:c.320C>T, NM_001282538.1:c.20C>T, NM_001282538.2:c.20C>T, XM_017001060.3:c.320C>T, XM_017001060.2:c.320C>T, XM_017001060.1:c.320C>T, XM_017001061.3:c.320C>T, XM_017001061.2:c.320C>T, XM_017001061.1:c.320C>T, XM_017001059.3:c.320C>T, XM_017001059.2:c.320C>T, XM_017001059.1:c.320C>T, XM_024446495.2:c.320C>T, XM_024446495.1:c.320C>T, XM_047418057.1:c.320C>T, XM_047418046.1:c.320C>T, XM_047418050.1:c.320C>T, XM_047418054.1:c.320C>T, XM_047418044.1:c.320C>T, XM_047418059.1:c.320C>T, XM_047418058.1:c.320C>T, XM_047418061.1:c.320C>T, XM_047418045.1:c.320C>T, XM_047418042.1:c.320C>T, XM_047418071.1:c.320C>T, XM_047418056.1:c.320C>T, XM_047418060.1:c.320C>T, XM_047418069.1:c.320C>T, XM_047418049.1:c.320C>T, XM_047418070.1:c.320C>T, XM_047418073.1:c.281C>T, XM_047418062.1:c.320C>T, XM_047418063.1:c.320C>T, XM_047418043.1:c.320C>T, XM_047418067.1:c.320C>T, XM_047418072.1:c.281C>T, XM_047418055.1:c.320C>T, XM_047418076.1:c.281C>T, XM_047418078.1:c.281C>T, XM_047418068.1:c.320C>T, XM_047418074.1:c.281C>T, NP_002065.1:p.Pro107Leu, NP_001269468.1:p.Pro107Leu, NP_001269467.1:p.Pro7Leu, XP_016856549.1:p.Pro107Leu, XP_016856550.1:p.Pro107Leu, XP_016856548.1:p.Pro107Leu, XP_024302263.1:p.Pro107Leu, XP_047274013.1:p.Pro107Leu, XP_047274002.1:p.Pro107Leu, XP_047274006.1:p.Pro107Leu, XP_047274010.1:p.Pro107Leu, XP_047274000.1:p.Pro107Leu, XP_047274015.1:p.Pro107Leu, XP_047274014.1:p.Pro107Leu, XP_047274017.1:p.Pro107Leu, XP_047274001.1:p.Pro107Leu, XP_047273998.1:p.Pro107Leu, XP_047274027.1:p.Pro107Leu, XP_047274012.1:p.Pro107Leu, XP_047274016.1:p.Pro107Leu, XP_047274025.1:p.Pro107Leu, XP_047274005.1:p.Pro107Leu, XP_047274026.1:p.Pro107Leu, XP_047274029.1:p.Pro94Leu, XP_047274018.1:p.Pro107Leu, XP_047274019.1:p.Pro107Leu, XP_047273999.1:p.Pro107Leu, XP_047274023.1:p.Pro107Leu, XP_047274028.1:p.Pro94Leu, XP_047274011.1:p.Pro107Leu, XP_047274032.1:p.Pro94Leu, XP_047274034.1:p.Pro94Leu, XP_047274024.1:p.Pro107Leu, XP_047274030.1:p.Pro94Leu

      3.

      rs1474574287 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:1789105 (GRCh38)
        1:1720544 (GRCh37)
        Canonical SPDI:
        NC_000001.11:1789104:C:T
        Gene:
        GNB1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.1789105C>T, NC_000001.10:g.1720544C>T, NG_047052.1:g.107013G>A, NM_002074.5:c.864G>A, NM_002074.4:c.864G>A, NM_002074.3:c.864G>A, NM_001282539.1:c.864G>A, NM_001282539.2:c.864G>A, NM_001282538.1:c.564G>A, NM_001282538.2:c.564G>A, XM_017001060.3:c.864G>A, XM_017001060.2:c.864G>A, XM_017001060.1:c.864G>A, XM_017001061.3:c.864G>A, XM_017001061.2:c.864G>A, XM_017001061.1:c.864G>A, XM_017001059.3:c.864G>A, XM_017001059.2:c.864G>A, XM_017001059.1:c.864G>A, XM_024446495.2:c.864G>A, XM_024446495.1:c.864G>A, XM_047418057.1:c.864G>A, XM_047418046.1:c.864G>A, XM_047418050.1:c.864G>A, XM_047418054.1:c.864G>A, XM_047418044.1:c.864G>A, XM_047418059.1:c.864G>A, XM_047418058.1:c.864G>A, XM_047418061.1:c.864G>A, XM_047418045.1:c.864G>A, XM_047418042.1:c.864G>A, XM_047418071.1:c.864G>A, XM_047418056.1:c.864G>A, XM_047418060.1:c.864G>A, XM_047418069.1:c.864G>A, XM_047418049.1:c.864G>A, XM_047418070.1:c.864G>A, XM_047418073.1:c.825G>A, XM_047418062.1:c.864G>A, XM_047418063.1:c.864G>A, XM_047418043.1:c.864G>A, XM_047418067.1:c.864G>A, XM_047418072.1:c.825G>A, XM_047418055.1:c.864G>A, XM_047418076.1:c.825G>A, XM_047418078.1:c.825G>A, XM_047418068.1:c.864G>A, XM_047418074.1:c.825G>A

        4.

        rs1467513534 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:1817849 (GRCh38)
          1:1749288 (GRCh37)
          Canonical SPDI:
          NC_000001.11:1817848:T:C
          Gene:
          GNB1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.1817849T>C, NC_000001.10:g.1749288T>C, NG_047052.1:g.78269A>G, NM_002074.5:c.84A>G, NM_002074.4:c.84A>G, NM_002074.3:c.84A>G, NM_001282539.1:c.84A>G, NM_001282539.2:c.84A>G, XM_017001060.3:c.84A>G, XM_017001060.2:c.84A>G, XM_017001060.1:c.84A>G, XM_017001061.3:c.84A>G, XM_017001061.2:c.84A>G, XM_017001061.1:c.84A>G, XM_017001059.3:c.84A>G, XM_017001059.2:c.84A>G, XM_017001059.1:c.84A>G, XM_024446495.2:c.84A>G, XM_024446495.1:c.84A>G, XM_047418057.1:c.84A>G, XM_047418046.1:c.84A>G, XM_047418050.1:c.84A>G, XM_047418054.1:c.84A>G, XM_047418044.1:c.84A>G, XM_047418059.1:c.84A>G, XM_047418058.1:c.84A>G, XM_047418061.1:c.84A>G, XM_047418045.1:c.84A>G, XM_047418042.1:c.84A>G, XM_047418071.1:c.84A>G, XM_047418056.1:c.84A>G, XM_047418060.1:c.84A>G, XM_047418069.1:c.84A>G, XM_047418049.1:c.84A>G, XM_047418070.1:c.84A>G, XM_047418062.1:c.84A>G, XM_047418063.1:c.84A>G, XM_047418043.1:c.84A>G, XM_047418067.1:c.84A>G, XM_047418055.1:c.84A>G, XM_047418068.1:c.84A>G

          5.

          rs1466780060 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            1:1789247 (GRCh38)
            1:1720686 (GRCh37)
            Canonical SPDI:
            NC_000001.11:1789246:A:T
            Gene:
            GNB1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.1789247A>T, NC_000001.10:g.1720686A>T, NG_047052.1:g.106871T>A, NM_002074.5:c.722T>A, NM_002074.4:c.722T>A, NM_002074.3:c.722T>A, NM_001282539.1:c.722T>A, NM_001282539.2:c.722T>A, NM_001282538.1:c.422T>A, NM_001282538.2:c.422T>A, XM_017001060.3:c.722T>A, XM_017001060.2:c.722T>A, XM_017001060.1:c.722T>A, XM_017001061.3:c.722T>A, XM_017001061.2:c.722T>A, XM_017001061.1:c.722T>A, XM_017001059.3:c.722T>A, XM_017001059.2:c.722T>A, XM_017001059.1:c.722T>A, XM_024446495.2:c.722T>A, XM_024446495.1:c.722T>A, XM_047418057.1:c.722T>A, XM_047418046.1:c.722T>A, XM_047418050.1:c.722T>A, XM_047418054.1:c.722T>A, XM_047418044.1:c.722T>A, XM_047418059.1:c.722T>A, XM_047418058.1:c.722T>A, XM_047418061.1:c.722T>A, XM_047418045.1:c.722T>A, XM_047418042.1:c.722T>A, XM_047418071.1:c.722T>A, XM_047418056.1:c.722T>A, XM_047418060.1:c.722T>A, XM_047418069.1:c.722T>A, XM_047418049.1:c.722T>A, XM_047418070.1:c.722T>A, XM_047418073.1:c.683T>A, XM_047418062.1:c.722T>A, XM_047418063.1:c.722T>A, XM_047418043.1:c.722T>A, XM_047418067.1:c.722T>A, XM_047418072.1:c.683T>A, XM_047418055.1:c.722T>A, XM_047418076.1:c.683T>A, XM_047418078.1:c.683T>A, XM_047418068.1:c.722T>A, XM_047418074.1:c.683T>A, NP_002065.1:p.Phe241Tyr, NP_001269468.1:p.Phe241Tyr, NP_001269467.1:p.Phe141Tyr, XP_016856549.1:p.Phe241Tyr, XP_016856550.1:p.Phe241Tyr, XP_016856548.1:p.Phe241Tyr, XP_024302263.1:p.Phe241Tyr, XP_047274013.1:p.Phe241Tyr, XP_047274002.1:p.Phe241Tyr, XP_047274006.1:p.Phe241Tyr, XP_047274010.1:p.Phe241Tyr, XP_047274000.1:p.Phe241Tyr, XP_047274015.1:p.Phe241Tyr, XP_047274014.1:p.Phe241Tyr, XP_047274017.1:p.Phe241Tyr, XP_047274001.1:p.Phe241Tyr, XP_047273998.1:p.Phe241Tyr, XP_047274027.1:p.Phe241Tyr, XP_047274012.1:p.Phe241Tyr, XP_047274016.1:p.Phe241Tyr, XP_047274025.1:p.Phe241Tyr, XP_047274005.1:p.Phe241Tyr, XP_047274026.1:p.Phe241Tyr, XP_047274029.1:p.Phe228Tyr, XP_047274018.1:p.Phe241Tyr, XP_047274019.1:p.Phe241Tyr, XP_047273999.1:p.Phe241Tyr, XP_047274023.1:p.Phe241Tyr, XP_047274028.1:p.Phe228Tyr, XP_047274011.1:p.Phe241Tyr, XP_047274032.1:p.Phe228Tyr, XP_047274034.1:p.Phe228Tyr, XP_047274024.1:p.Phe241Tyr, XP_047274030.1:p.Phe228Tyr

            6.

            rs1463388259 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              1:1790442 (GRCh38)
              1:1721881 (GRCh37)
              Canonical SPDI:
              NC_000001.11:1790441:A:T
              Gene:
              GNB1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.1790442A>T, NC_000001.10:g.1721881A>T, NG_047052.1:g.105676T>A, NM_002074.5:c.652T>A, NM_002074.4:c.652T>A, NM_002074.3:c.652T>A, NM_001282539.1:c.652T>A, NM_001282539.2:c.652T>A, NM_001282538.1:c.352T>A, NM_001282538.2:c.352T>A, XM_017001060.3:c.652T>A, XM_017001060.2:c.652T>A, XM_017001060.1:c.652T>A, XM_017001061.3:c.652T>A, XM_017001061.2:c.652T>A, XM_017001061.1:c.652T>A, XM_017001059.3:c.652T>A, XM_017001059.2:c.652T>A, XM_017001059.1:c.652T>A, XM_024446495.2:c.652T>A, XM_024446495.1:c.652T>A, XM_047418057.1:c.652T>A, XM_047418046.1:c.652T>A, XM_047418050.1:c.652T>A, XM_047418054.1:c.652T>A, XM_047418044.1:c.652T>A, XM_047418059.1:c.652T>A, XM_047418058.1:c.652T>A, XM_047418061.1:c.652T>A, XM_047418045.1:c.652T>A, XM_047418042.1:c.652T>A, XM_047418071.1:c.652T>A, XM_047418056.1:c.652T>A, XM_047418060.1:c.652T>A, XM_047418069.1:c.652T>A, XM_047418049.1:c.652T>A, XM_047418070.1:c.652T>A, XM_047418073.1:c.613T>A, XM_047418062.1:c.652T>A, XM_047418063.1:c.652T>A, XM_047418043.1:c.652T>A, XM_047418067.1:c.652T>A, XM_047418072.1:c.613T>A, XM_047418055.1:c.652T>A, XM_047418076.1:c.613T>A, XM_047418078.1:c.613T>A, XM_047418068.1:c.652T>A, XM_047418074.1:c.613T>A, NP_002065.1:p.Cys218Ser, NP_001269468.1:p.Cys218Ser, NP_001269467.1:p.Cys118Ser, XP_016856549.1:p.Cys218Ser, XP_016856550.1:p.Cys218Ser, XP_016856548.1:p.Cys218Ser, XP_024302263.1:p.Cys218Ser, XP_047274013.1:p.Cys218Ser, XP_047274002.1:p.Cys218Ser, XP_047274006.1:p.Cys218Ser, XP_047274010.1:p.Cys218Ser, XP_047274000.1:p.Cys218Ser, XP_047274015.1:p.Cys218Ser, XP_047274014.1:p.Cys218Ser, XP_047274017.1:p.Cys218Ser, XP_047274001.1:p.Cys218Ser, XP_047273998.1:p.Cys218Ser, XP_047274027.1:p.Cys218Ser, XP_047274012.1:p.Cys218Ser, XP_047274016.1:p.Cys218Ser, XP_047274025.1:p.Cys218Ser, XP_047274005.1:p.Cys218Ser, XP_047274026.1:p.Cys218Ser, XP_047274029.1:p.Cys205Ser, XP_047274018.1:p.Cys218Ser, XP_047274019.1:p.Cys218Ser, XP_047273999.1:p.Cys218Ser, XP_047274023.1:p.Cys218Ser, XP_047274028.1:p.Cys205Ser, XP_047274011.1:p.Cys218Ser, XP_047274032.1:p.Cys205Ser, XP_047274034.1:p.Cys205Ser, XP_047274024.1:p.Cys218Ser, XP_047274030.1:p.Cys205Ser

              7.

              rs1460823684 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:1806523 (GRCh38)
                1:1737962 (GRCh37)
                Canonical SPDI:
                NC_000001.11:1806522:G:A
                Gene:
                GNB1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.1806523G>A, NC_000001.10:g.1737962G>A, NG_047052.1:g.89595C>T, NM_002074.5:c.219C>T, NM_002074.4:c.219C>T, NM_002074.3:c.219C>T, NM_001282539.1:c.219C>T, NM_001282539.2:c.219C>T, NM_001282538.1:c.-82C>T, NM_001282538.2:c.-82C>T, XM_017001060.3:c.219C>T, XM_017001060.2:c.219C>T, XM_017001060.1:c.219C>T, XM_017001061.3:c.219C>T, XM_017001061.2:c.219C>T, XM_017001061.1:c.219C>T, XM_017001059.3:c.219C>T, XM_017001059.2:c.219C>T, XM_017001059.1:c.219C>T, XM_024446495.2:c.219C>T, XM_024446495.1:c.219C>T, XM_047418057.1:c.219C>T, XM_047418046.1:c.219C>T, XM_047418050.1:c.219C>T, XM_047418054.1:c.219C>T, XM_047418044.1:c.219C>T, XM_047418059.1:c.219C>T, XM_047418058.1:c.219C>T, XM_047418061.1:c.219C>T, XM_047418045.1:c.219C>T, XM_047418042.1:c.219C>T, XM_047418071.1:c.219C>T, XM_047418056.1:c.219C>T, XM_047418060.1:c.219C>T, XM_047418069.1:c.219C>T, XM_047418049.1:c.219C>T, XM_047418070.1:c.219C>T, XM_047418073.1:c.180C>T, XM_047418062.1:c.219C>T, XM_047418063.1:c.219C>T, XM_047418043.1:c.219C>T, XM_047418067.1:c.219C>T, XM_047418072.1:c.180C>T, XM_047418055.1:c.219C>T, XM_047418076.1:c.180C>T, XM_047418078.1:c.180C>T, XM_047418068.1:c.219C>T, XM_047418074.1:c.180C>T

                8.

                rs1455316357 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:1787418 (GRCh38)
                  1:1718857 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:1787417:G:A
                  Gene:
                  GNB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000001.11:g.1787418G>A, NC_000001.10:g.1718857G>A, NG_047052.1:g.108700C>T, NM_002074.5:c.936C>T, NM_002074.4:c.936C>T, NM_002074.3:c.936C>T, NM_001282539.1:c.936C>T, NM_001282539.2:c.936C>T, NM_001282538.1:c.636C>T, NM_001282538.2:c.636C>T, XM_017001060.3:c.936C>T, XM_017001060.2:c.936C>T, XM_017001060.1:c.936C>T, XM_017001061.3:c.936C>T, XM_017001061.2:c.936C>T, XM_017001061.1:c.936C>T, XM_017001059.3:c.936C>T, XM_017001059.2:c.936C>T, XM_017001059.1:c.936C>T, XM_024446495.2:c.936C>T, XM_024446495.1:c.936C>T, XM_047418057.1:c.936C>T, XM_047418046.1:c.936C>T, XM_047418050.1:c.936C>T, XM_047418054.1:c.936C>T, XM_047418044.1:c.936C>T, XM_047418059.1:c.936C>T, XM_047418058.1:c.936C>T, XM_047418061.1:c.936C>T, XM_047418045.1:c.936C>T, XM_047418042.1:c.936C>T, XM_047418071.1:c.936C>T, XM_047418056.1:c.936C>T, XM_047418060.1:c.936C>T, XM_047418069.1:c.936C>T, XM_047418049.1:c.936C>T, XM_047418070.1:c.936C>T, XM_047418073.1:c.897C>T, XM_047418062.1:c.936C>T, XM_047418063.1:c.936C>T, XM_047418043.1:c.936C>T, XM_047418067.1:c.936C>T, XM_047418072.1:c.897C>T, XM_047418055.1:c.936C>T, XM_047418076.1:c.897C>T, XM_047418078.1:c.897C>T, XM_047418068.1:c.936C>T, XM_047418074.1:c.897C>T

                  9.

                  rs1452987372 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:1804463 (GRCh38)
                    1:1735902 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:1804462:C:T
                    Gene:
                    GNB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.1804463C>T, NC_000001.10:g.1735902C>T, NG_047052.1:g.91655G>A, NM_002074.5:c.386G>A, NM_002074.4:c.386G>A, NM_002074.3:c.386G>A, NM_001282539.1:c.386G>A, NM_001282539.2:c.386G>A, NM_001282538.1:c.86G>A, NM_001282538.2:c.86G>A, XM_017001060.3:c.386G>A, XM_017001060.2:c.386G>A, XM_017001060.1:c.386G>A, XM_017001061.3:c.386G>A, XM_017001061.2:c.386G>A, XM_017001061.1:c.386G>A, XM_017001059.3:c.386G>A, XM_017001059.2:c.386G>A, XM_017001059.1:c.386G>A, XM_024446495.2:c.386G>A, XM_024446495.1:c.386G>A, XM_047418057.1:c.386G>A, XM_047418046.1:c.386G>A, XM_047418050.1:c.386G>A, XM_047418054.1:c.386G>A, XM_047418044.1:c.386G>A, XM_047418059.1:c.386G>A, XM_047418058.1:c.386G>A, XM_047418061.1:c.386G>A, XM_047418045.1:c.386G>A, XM_047418042.1:c.386G>A, XM_047418071.1:c.386G>A, XM_047418056.1:c.386G>A, XM_047418060.1:c.386G>A, XM_047418069.1:c.386G>A, XM_047418049.1:c.386G>A, XM_047418070.1:c.386G>A, XM_047418073.1:c.347G>A, XM_047418062.1:c.386G>A, XM_047418063.1:c.386G>A, XM_047418043.1:c.386G>A, XM_047418067.1:c.386G>A, XM_047418072.1:c.347G>A, XM_047418055.1:c.386G>A, XM_047418076.1:c.347G>A, XM_047418078.1:c.347G>A, XM_047418068.1:c.386G>A, XM_047418074.1:c.347G>A, NP_002065.1:p.Arg129His, NP_001269468.1:p.Arg129His, NP_001269467.1:p.Arg29His, XP_016856549.1:p.Arg129His, XP_016856550.1:p.Arg129His, XP_016856548.1:p.Arg129His, XP_024302263.1:p.Arg129His, XP_047274013.1:p.Arg129His, XP_047274002.1:p.Arg129His, XP_047274006.1:p.Arg129His, XP_047274010.1:p.Arg129His, XP_047274000.1:p.Arg129His, XP_047274015.1:p.Arg129His, XP_047274014.1:p.Arg129His, XP_047274017.1:p.Arg129His, XP_047274001.1:p.Arg129His, XP_047273998.1:p.Arg129His, XP_047274027.1:p.Arg129His, XP_047274012.1:p.Arg129His, XP_047274016.1:p.Arg129His, XP_047274025.1:p.Arg129His, XP_047274005.1:p.Arg129His, XP_047274026.1:p.Arg129His, XP_047274029.1:p.Arg116His, XP_047274018.1:p.Arg129His, XP_047274019.1:p.Arg129His, XP_047273999.1:p.Arg129His, XP_047274023.1:p.Arg129His, XP_047274028.1:p.Arg116His, XP_047274011.1:p.Arg129His, XP_047274032.1:p.Arg116His, XP_047274034.1:p.Arg116His, XP_047274024.1:p.Arg129His, XP_047274030.1:p.Arg116His

                    10.

                    rs1451582353 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      1:1806477 (GRCh38)
                      1:1737916 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:1806476:T:G
                      Gene:
                      GNB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant
                      HGVS:
                      NC_000001.11:g.1806477T>G, NC_000001.10:g.1737916T>G, NG_047052.1:g.89641A>C, NM_002074.5:c.265A>C, NM_002074.4:c.265A>C, NM_002074.3:c.265A>C, NM_001282539.1:c.265A>C, NM_001282539.2:c.265A>C, NM_001282538.1:c.-36A>C, NM_001282538.2:c.-36A>C, XM_017001060.3:c.265A>C, XM_017001060.2:c.265A>C, XM_017001060.1:c.265A>C, XM_017001061.3:c.265A>C, XM_017001061.2:c.265A>C, XM_017001061.1:c.265A>C, XM_017001059.3:c.265A>C, XM_017001059.2:c.265A>C, XM_017001059.1:c.265A>C, XM_024446495.2:c.265A>C, XM_024446495.1:c.265A>C, XM_047418057.1:c.265A>C, XM_047418046.1:c.265A>C, XM_047418050.1:c.265A>C, XM_047418054.1:c.265A>C, XM_047418044.1:c.265A>C, XM_047418059.1:c.265A>C, XM_047418058.1:c.265A>C, XM_047418061.1:c.265A>C, XM_047418045.1:c.265A>C, XM_047418042.1:c.265A>C, XM_047418071.1:c.265A>C, XM_047418056.1:c.265A>C, XM_047418060.1:c.265A>C, XM_047418069.1:c.265A>C, XM_047418049.1:c.265A>C, XM_047418070.1:c.265A>C, XM_047418073.1:c.226A>C, XM_047418062.1:c.265A>C, XM_047418063.1:c.265A>C, XM_047418043.1:c.265A>C, XM_047418067.1:c.265A>C, XM_047418072.1:c.226A>C, XM_047418055.1:c.265A>C, XM_047418076.1:c.226A>C, XM_047418078.1:c.226A>C, XM_047418068.1:c.265A>C, XM_047418074.1:c.226A>C, NP_002065.1:p.Lys89Gln, NP_001269468.1:p.Lys89Gln, XP_016856549.1:p.Lys89Gln, XP_016856550.1:p.Lys89Gln, XP_016856548.1:p.Lys89Gln, XP_024302263.1:p.Lys89Gln, XP_047274013.1:p.Lys89Gln, XP_047274002.1:p.Lys89Gln, XP_047274006.1:p.Lys89Gln, XP_047274010.1:p.Lys89Gln, XP_047274000.1:p.Lys89Gln, XP_047274015.1:p.Lys89Gln, XP_047274014.1:p.Lys89Gln, XP_047274017.1:p.Lys89Gln, XP_047274001.1:p.Lys89Gln, XP_047273998.1:p.Lys89Gln, XP_047274027.1:p.Lys89Gln, XP_047274012.1:p.Lys89Gln, XP_047274016.1:p.Lys89Gln, XP_047274025.1:p.Lys89Gln, XP_047274005.1:p.Lys89Gln, XP_047274026.1:p.Lys89Gln, XP_047274029.1:p.Lys76Gln, XP_047274018.1:p.Lys89Gln, XP_047274019.1:p.Lys89Gln, XP_047273999.1:p.Lys89Gln, XP_047274023.1:p.Lys89Gln, XP_047274028.1:p.Lys76Gln, XP_047274011.1:p.Lys89Gln, XP_047274032.1:p.Lys76Gln, XP_047274034.1:p.Lys76Gln, XP_047274024.1:p.Lys89Gln, XP_047274030.1:p.Lys76Gln

                      11.

                      rs1440427117 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:1825405 (GRCh38)
                        1:1756844 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:1825404:G:T
                        Gene:
                        GNB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.1825405G>T, NC_000001.10:g.1756844G>T, NG_047052.1:g.70713C>A, NM_002074.5:c.49C>A, NM_002074.4:c.49C>A, NM_002074.3:c.49C>A, NM_001282539.1:c.49C>A, NM_001282539.2:c.49C>A, NM_001282538.1:c.-106C>A, NM_001282538.2:c.-106C>A, XM_017001060.3:c.49C>A, XM_017001060.2:c.49C>A, XM_017001060.1:c.49C>A, XM_017001061.3:c.49C>A, XM_017001061.2:c.49C>A, XM_017001061.1:c.49C>A, XM_017001059.3:c.49C>A, XM_017001059.2:c.49C>A, XM_017001059.1:c.49C>A, XM_024446495.2:c.49C>A, XM_024446495.1:c.49C>A, XM_047418057.1:c.49C>A, XM_047418046.1:c.49C>A, XM_047418050.1:c.49C>A, XM_047418054.1:c.49C>A, XM_047418044.1:c.49C>A, XM_047418059.1:c.49C>A, XM_047418058.1:c.49C>A, XM_047418061.1:c.49C>A, XM_047418045.1:c.49C>A, XM_047418042.1:c.49C>A, XM_047418071.1:c.49C>A, XM_047418056.1:c.49C>A, XM_047418060.1:c.49C>A, XM_047418069.1:c.49C>A, XM_047418049.1:c.49C>A, XM_047418070.1:c.49C>A, XM_047418073.1:c.49C>A, XM_047418062.1:c.49C>A, XM_047418063.1:c.49C>A, XM_047418043.1:c.49C>A, XM_047418067.1:c.49C>A, XM_047418072.1:c.49C>A, XM_047418055.1:c.49C>A, XM_047418076.1:c.49C>A, XM_047418078.1:c.49C>A, XM_047418068.1:c.49C>A, XM_047418074.1:c.49C>A, NP_002065.1:p.Gln17Lys, NP_001269468.1:p.Gln17Lys, XP_016856549.1:p.Gln17Lys, XP_016856550.1:p.Gln17Lys, XP_016856548.1:p.Gln17Lys, XP_024302263.1:p.Gln17Lys, XP_047274013.1:p.Gln17Lys, XP_047274002.1:p.Gln17Lys, XP_047274006.1:p.Gln17Lys, XP_047274010.1:p.Gln17Lys, XP_047274000.1:p.Gln17Lys, XP_047274015.1:p.Gln17Lys, XP_047274014.1:p.Gln17Lys, XP_047274017.1:p.Gln17Lys, XP_047274001.1:p.Gln17Lys, XP_047273998.1:p.Gln17Lys, XP_047274027.1:p.Gln17Lys, XP_047274012.1:p.Gln17Lys, XP_047274016.1:p.Gln17Lys, XP_047274025.1:p.Gln17Lys, XP_047274005.1:p.Gln17Lys, XP_047274026.1:p.Gln17Lys, XP_047274029.1:p.Gln17Lys, XP_047274018.1:p.Gln17Lys, XP_047274019.1:p.Gln17Lys, XP_047273999.1:p.Gln17Lys, XP_047274023.1:p.Gln17Lys, XP_047274028.1:p.Gln17Lys, XP_047274011.1:p.Gln17Lys, XP_047274032.1:p.Gln17Lys, XP_047274034.1:p.Gln17Lys, XP_047274024.1:p.Gln17Lys, XP_047274030.1:p.Gln17Lys

                        12.

                        rs1436973490 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:1825423 (GRCh38)
                          1:1756862 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:1825422:C:T
                          Gene:
                          GNB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000001.11:g.1825423C>T, NC_000001.10:g.1756862C>T, NG_047052.1:g.70695G>A, NM_002074.5:c.31G>A, NM_002074.4:c.31G>A, NM_002074.3:c.31G>A, NM_001282539.1:c.31G>A, NM_001282539.2:c.31G>A, NM_001282538.1:c.-124G>A, NM_001282538.2:c.-124G>A, XM_017001060.3:c.31G>A, XM_017001060.2:c.31G>A, XM_017001060.1:c.31G>A, XM_017001061.3:c.31G>A, XM_017001061.2:c.31G>A, XM_017001061.1:c.31G>A, XM_017001059.3:c.31G>A, XM_017001059.2:c.31G>A, XM_017001059.1:c.31G>A, XM_024446495.2:c.31G>A, XM_024446495.1:c.31G>A, XM_047418057.1:c.31G>A, XM_047418046.1:c.31G>A, XM_047418050.1:c.31G>A, XM_047418054.1:c.31G>A, XM_047418044.1:c.31G>A, XM_047418059.1:c.31G>A, XM_047418058.1:c.31G>A, XM_047418061.1:c.31G>A, XM_047418045.1:c.31G>A, XM_047418042.1:c.31G>A, XM_047418071.1:c.31G>A, XM_047418056.1:c.31G>A, XM_047418060.1:c.31G>A, XM_047418069.1:c.31G>A, XM_047418049.1:c.31G>A, XM_047418070.1:c.31G>A, XM_047418073.1:c.31G>A, XM_047418062.1:c.31G>A, XM_047418063.1:c.31G>A, XM_047418043.1:c.31G>A, XM_047418067.1:c.31G>A, XM_047418072.1:c.31G>A, XM_047418055.1:c.31G>A, XM_047418076.1:c.31G>A, XM_047418078.1:c.31G>A, XM_047418068.1:c.31G>A, XM_047418074.1:c.31G>A, NP_002065.1:p.Ala11Thr, NP_001269468.1:p.Ala11Thr, XP_016856549.1:p.Ala11Thr, XP_016856550.1:p.Ala11Thr, XP_016856548.1:p.Ala11Thr, XP_024302263.1:p.Ala11Thr, XP_047274013.1:p.Ala11Thr, XP_047274002.1:p.Ala11Thr, XP_047274006.1:p.Ala11Thr, XP_047274010.1:p.Ala11Thr, XP_047274000.1:p.Ala11Thr, XP_047274015.1:p.Ala11Thr, XP_047274014.1:p.Ala11Thr, XP_047274017.1:p.Ala11Thr, XP_047274001.1:p.Ala11Thr, XP_047273998.1:p.Ala11Thr, XP_047274027.1:p.Ala11Thr, XP_047274012.1:p.Ala11Thr, XP_047274016.1:p.Ala11Thr, XP_047274025.1:p.Ala11Thr, XP_047274005.1:p.Ala11Thr, XP_047274026.1:p.Ala11Thr, XP_047274029.1:p.Ala11Thr, XP_047274018.1:p.Ala11Thr, XP_047274019.1:p.Ala11Thr, XP_047273999.1:p.Ala11Thr, XP_047274023.1:p.Ala11Thr, XP_047274028.1:p.Ala11Thr, XP_047274011.1:p.Ala11Thr, XP_047274032.1:p.Ala11Thr, XP_047274034.1:p.Ala11Thr, XP_047274024.1:p.Ala11Thr, XP_047274030.1:p.Ala11Thr

                          13.

                          rs1435721727 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:1789091 (GRCh38)
                            1:1720530 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:1789090:T:C
                            Gene:
                            GNB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.1789091T>C, NC_000001.10:g.1720530T>C, NG_047052.1:g.107027A>G, NM_002074.5:c.878A>G, NM_002074.4:c.878A>G, NM_002074.3:c.878A>G, NM_001282539.1:c.878A>G, NM_001282539.2:c.878A>G, NM_001282538.1:c.578A>G, NM_001282538.2:c.578A>G, XM_017001060.3:c.878A>G, XM_017001060.2:c.878A>G, XM_017001060.1:c.878A>G, XM_017001061.3:c.878A>G, XM_017001061.2:c.878A>G, XM_017001061.1:c.878A>G, XM_017001059.3:c.878A>G, XM_017001059.2:c.878A>G, XM_017001059.1:c.878A>G, XM_024446495.2:c.878A>G, XM_024446495.1:c.878A>G, XM_047418057.1:c.878A>G, XM_047418046.1:c.878A>G, XM_047418050.1:c.878A>G, XM_047418054.1:c.878A>G, XM_047418044.1:c.878A>G, XM_047418059.1:c.878A>G, XM_047418058.1:c.878A>G, XM_047418061.1:c.878A>G, XM_047418045.1:c.878A>G, XM_047418042.1:c.878A>G, XM_047418071.1:c.878A>G, XM_047418056.1:c.878A>G, XM_047418060.1:c.878A>G, XM_047418069.1:c.878A>G, XM_047418049.1:c.878A>G, XM_047418070.1:c.878A>G, XM_047418073.1:c.839A>G, XM_047418062.1:c.878A>G, XM_047418063.1:c.878A>G, XM_047418043.1:c.878A>G, XM_047418067.1:c.878A>G, XM_047418072.1:c.839A>G, XM_047418055.1:c.878A>G, XM_047418076.1:c.839A>G, XM_047418078.1:c.839A>G, XM_047418068.1:c.878A>G, XM_047418074.1:c.839A>G, NP_002065.1:p.Asn293Ser, NP_001269468.1:p.Asn293Ser, NP_001269467.1:p.Asn193Ser, XP_016856549.1:p.Asn293Ser, XP_016856550.1:p.Asn293Ser, XP_016856548.1:p.Asn293Ser, XP_024302263.1:p.Asn293Ser, XP_047274013.1:p.Asn293Ser, XP_047274002.1:p.Asn293Ser, XP_047274006.1:p.Asn293Ser, XP_047274010.1:p.Asn293Ser, XP_047274000.1:p.Asn293Ser, XP_047274015.1:p.Asn293Ser, XP_047274014.1:p.Asn293Ser, XP_047274017.1:p.Asn293Ser, XP_047274001.1:p.Asn293Ser, XP_047273998.1:p.Asn293Ser, XP_047274027.1:p.Asn293Ser, XP_047274012.1:p.Asn293Ser, XP_047274016.1:p.Asn293Ser, XP_047274025.1:p.Asn293Ser, XP_047274005.1:p.Asn293Ser, XP_047274026.1:p.Asn293Ser, XP_047274029.1:p.Asn280Ser, XP_047274018.1:p.Asn293Ser, XP_047274019.1:p.Asn293Ser, XP_047273999.1:p.Asn293Ser, XP_047274023.1:p.Asn293Ser, XP_047274028.1:p.Asn280Ser, XP_047274011.1:p.Asn293Ser, XP_047274032.1:p.Asn280Ser, XP_047274034.1:p.Asn280Ser, XP_047274024.1:p.Asn293Ser, XP_047274030.1:p.Asn280Ser

                            14.

                            rs1434913815 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:1815797 (GRCh38)
                              1:1747236 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:1815796:G:A
                              Gene:
                              GNB1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.1815797G>A, NC_000001.10:g.1747236G>A, NG_047052.1:g.80321C>T, NM_002074.5:c.162C>T, NM_002074.4:c.162C>T, NM_002074.3:c.162C>T, NM_001282539.1:c.162C>T, NM_001282539.2:c.162C>T, XM_017001060.3:c.162C>T, XM_017001060.2:c.162C>T, XM_017001060.1:c.162C>T, XM_017001061.3:c.162C>T, XM_017001061.2:c.162C>T, XM_017001061.1:c.162C>T, XM_017001059.3:c.162C>T, XM_017001059.2:c.162C>T, XM_017001059.1:c.162C>T, XM_024446495.2:c.162C>T, XM_024446495.1:c.162C>T, XM_047418057.1:c.162C>T, XM_047418046.1:c.162C>T, XM_047418050.1:c.162C>T, XM_047418054.1:c.162C>T, XM_047418044.1:c.162C>T, XM_047418059.1:c.162C>T, XM_047418058.1:c.162C>T, XM_047418061.1:c.162C>T, XM_047418045.1:c.162C>T, XM_047418042.1:c.162C>T, XM_047418071.1:c.162C>T, XM_047418056.1:c.162C>T, XM_047418060.1:c.162C>T, XM_047418069.1:c.162C>T, XM_047418049.1:c.162C>T, XM_047418070.1:c.162C>T, XM_047418073.1:c.123C>T, XM_047418062.1:c.162C>T, XM_047418063.1:c.162C>T, XM_047418043.1:c.162C>T, XM_047418067.1:c.162C>T, XM_047418072.1:c.123C>T, XM_047418055.1:c.162C>T, XM_047418076.1:c.123C>T, XM_047418078.1:c.123C>T, XM_047418068.1:c.162C>T, XM_047418074.1:c.123C>T

                              15.

                              rs1429700732 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:1789225 (GRCh38)
                                1:1720664 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:1789224:G:A
                                Gene:
                                GNB1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.1789225G>A, NC_000001.10:g.1720664G>A, NG_047052.1:g.106893C>T, NM_002074.5:c.744C>T, NM_002074.4:c.744C>T, NM_002074.3:c.744C>T, NM_001282539.1:c.744C>T, NM_001282539.2:c.744C>T, NM_001282538.1:c.444C>T, NM_001282538.2:c.444C>T, XM_017001060.3:c.744C>T, XM_017001060.2:c.744C>T, XM_017001060.1:c.744C>T, XM_017001061.3:c.744C>T, XM_017001061.2:c.744C>T, XM_017001061.1:c.744C>T, XM_017001059.3:c.744C>T, XM_017001059.2:c.744C>T, XM_017001059.1:c.744C>T, XM_024446495.2:c.744C>T, XM_024446495.1:c.744C>T, XM_047418057.1:c.744C>T, XM_047418046.1:c.744C>T, XM_047418050.1:c.744C>T, XM_047418054.1:c.744C>T, XM_047418044.1:c.744C>T, XM_047418059.1:c.744C>T, XM_047418058.1:c.744C>T, XM_047418061.1:c.744C>T, XM_047418045.1:c.744C>T, XM_047418042.1:c.744C>T, XM_047418071.1:c.744C>T, XM_047418056.1:c.744C>T, XM_047418060.1:c.744C>T, XM_047418069.1:c.744C>T, XM_047418049.1:c.744C>T, XM_047418070.1:c.744C>T, XM_047418073.1:c.705C>T, XM_047418062.1:c.744C>T, XM_047418063.1:c.744C>T, XM_047418043.1:c.744C>T, XM_047418067.1:c.744C>T, XM_047418072.1:c.705C>T, XM_047418055.1:c.744C>T, XM_047418076.1:c.705C>T, XM_047418078.1:c.705C>T, XM_047418068.1:c.744C>T, XM_047418074.1:c.705C>T

                                16.

                                rs1415626456 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:1804545 (GRCh38)
                                  1:1735984 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:1804544:T:C
                                  Gene:
                                  GNB1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.1804545T>C, NC_000001.10:g.1735984T>C, NG_047052.1:g.91573A>G, NM_002074.5:c.304A>G, NM_002074.4:c.304A>G, NM_002074.3:c.304A>G, NM_001282539.1:c.304A>G, NM_001282539.2:c.304A>G, NM_001282538.1:c.4A>G, NM_001282538.2:c.4A>G, XM_017001060.3:c.304A>G, XM_017001060.2:c.304A>G, XM_017001060.1:c.304A>G, XM_017001061.3:c.304A>G, XM_017001061.2:c.304A>G, XM_017001061.1:c.304A>G, XM_017001059.3:c.304A>G, XM_017001059.2:c.304A>G, XM_017001059.1:c.304A>G, XM_024446495.2:c.304A>G, XM_024446495.1:c.304A>G, XM_047418057.1:c.304A>G, XM_047418046.1:c.304A>G, XM_047418050.1:c.304A>G, XM_047418054.1:c.304A>G, XM_047418044.1:c.304A>G, XM_047418059.1:c.304A>G, XM_047418058.1:c.304A>G, XM_047418061.1:c.304A>G, XM_047418045.1:c.304A>G, XM_047418042.1:c.304A>G, XM_047418071.1:c.304A>G, XM_047418056.1:c.304A>G, XM_047418060.1:c.304A>G, XM_047418069.1:c.304A>G, XM_047418049.1:c.304A>G, XM_047418070.1:c.304A>G, XM_047418073.1:c.265A>G, XM_047418062.1:c.304A>G, XM_047418063.1:c.304A>G, XM_047418043.1:c.304A>G, XM_047418067.1:c.304A>G, XM_047418072.1:c.265A>G, XM_047418055.1:c.304A>G, XM_047418076.1:c.265A>G, XM_047418078.1:c.265A>G, XM_047418068.1:c.304A>G, XM_047418074.1:c.265A>G, NP_002065.1:p.Thr102Ala, NP_001269468.1:p.Thr102Ala, NP_001269467.1:p.Thr2Ala, XP_016856549.1:p.Thr102Ala, XP_016856550.1:p.Thr102Ala, XP_016856548.1:p.Thr102Ala, XP_024302263.1:p.Thr102Ala, XP_047274013.1:p.Thr102Ala, XP_047274002.1:p.Thr102Ala, XP_047274006.1:p.Thr102Ala, XP_047274010.1:p.Thr102Ala, XP_047274000.1:p.Thr102Ala, XP_047274015.1:p.Thr102Ala, XP_047274014.1:p.Thr102Ala, XP_047274017.1:p.Thr102Ala, XP_047274001.1:p.Thr102Ala, XP_047273998.1:p.Thr102Ala, XP_047274027.1:p.Thr102Ala, XP_047274012.1:p.Thr102Ala, XP_047274016.1:p.Thr102Ala, XP_047274025.1:p.Thr102Ala, XP_047274005.1:p.Thr102Ala, XP_047274026.1:p.Thr102Ala, XP_047274029.1:p.Thr89Ala, XP_047274018.1:p.Thr102Ala, XP_047274019.1:p.Thr102Ala, XP_047273999.1:p.Thr102Ala, XP_047274023.1:p.Thr102Ala, XP_047274028.1:p.Thr89Ala, XP_047274011.1:p.Thr102Ala, XP_047274032.1:p.Thr89Ala, XP_047274034.1:p.Thr89Ala, XP_047274024.1:p.Thr102Ala, XP_047274030.1:p.Thr89Ala

                                  17.

                                  rs1414850661 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:1815778 (GRCh38)
                                    1:1747217 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:1815777:T:G
                                    Gene:
                                    GNB1 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.1815778T>G, NC_000001.10:g.1747217T>G, NG_047052.1:g.80340A>C, NM_002074.5:c.181A>C, NM_002074.4:c.181A>C, NM_002074.3:c.181A>C, NM_001282539.1:c.181A>C, NM_001282539.2:c.181A>C, XM_017001060.3:c.181A>C, XM_017001060.2:c.181A>C, XM_017001060.1:c.181A>C, XM_017001061.3:c.181A>C, XM_017001061.2:c.181A>C, XM_017001061.1:c.181A>C, XM_017001059.3:c.181A>C, XM_017001059.2:c.181A>C, XM_017001059.1:c.181A>C, XM_024446495.2:c.181A>C, XM_024446495.1:c.181A>C, XM_047418057.1:c.181A>C, XM_047418046.1:c.181A>C, XM_047418050.1:c.181A>C, XM_047418054.1:c.181A>C, XM_047418044.1:c.181A>C, XM_047418059.1:c.181A>C, XM_047418058.1:c.181A>C, XM_047418061.1:c.181A>C, XM_047418045.1:c.181A>C, XM_047418042.1:c.181A>C, XM_047418071.1:c.181A>C, XM_047418056.1:c.181A>C, XM_047418060.1:c.181A>C, XM_047418069.1:c.181A>C, XM_047418049.1:c.181A>C, XM_047418070.1:c.181A>C, XM_047418073.1:c.142A>C, XM_047418062.1:c.181A>C, XM_047418063.1:c.181A>C, XM_047418043.1:c.181A>C, XM_047418067.1:c.181A>C, XM_047418072.1:c.142A>C, XM_047418055.1:c.181A>C, XM_047418076.1:c.142A>C, XM_047418078.1:c.142A>C, XM_047418068.1:c.181A>C, XM_047418074.1:c.142A>C, NP_002065.1:p.Met61Leu, NP_001269468.1:p.Met61Leu, XP_016856549.1:p.Met61Leu, XP_016856550.1:p.Met61Leu, XP_016856548.1:p.Met61Leu, XP_024302263.1:p.Met61Leu, XP_047274013.1:p.Met61Leu, XP_047274002.1:p.Met61Leu, XP_047274006.1:p.Met61Leu, XP_047274010.1:p.Met61Leu, XP_047274000.1:p.Met61Leu, XP_047274015.1:p.Met61Leu, XP_047274014.1:p.Met61Leu, XP_047274017.1:p.Met61Leu, XP_047274001.1:p.Met61Leu, XP_047273998.1:p.Met61Leu, XP_047274027.1:p.Met61Leu, XP_047274012.1:p.Met61Leu, XP_047274016.1:p.Met61Leu, XP_047274025.1:p.Met61Leu, XP_047274005.1:p.Met61Leu, XP_047274026.1:p.Met61Leu, XP_047274029.1:p.Met48Leu, XP_047274018.1:p.Met61Leu, XP_047274019.1:p.Met61Leu, XP_047273999.1:p.Met61Leu, XP_047274023.1:p.Met61Leu, XP_047274028.1:p.Met48Leu, XP_047274011.1:p.Met61Leu, XP_047274032.1:p.Met48Leu, XP_047274034.1:p.Met48Leu, XP_047274024.1:p.Met61Leu, XP_047274030.1:p.Met48Leu

                                    18.

                                    rs1400569607 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:1806502 (GRCh38)
                                      1:1737941 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:1806501:G:C
                                      Gene:
                                      GNB1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000047/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.1806502G>C, NC_000001.10:g.1737941G>C, NG_047052.1:g.89616C>G, NM_002074.5:c.240C>G, NM_002074.4:c.240C>G, NM_002074.3:c.240C>G, NM_001282539.1:c.240C>G, NM_001282539.2:c.240C>G, NM_001282538.1:c.-61C>G, NM_001282538.2:c.-61C>G, XM_017001060.3:c.240C>G, XM_017001060.2:c.240C>G, XM_017001060.1:c.240C>G, XM_017001061.3:c.240C>G, XM_017001061.2:c.240C>G, XM_017001061.1:c.240C>G, XM_017001059.3:c.240C>G, XM_017001059.2:c.240C>G, XM_017001059.1:c.240C>G, XM_024446495.2:c.240C>G, XM_024446495.1:c.240C>G, XM_047418057.1:c.240C>G, XM_047418046.1:c.240C>G, XM_047418050.1:c.240C>G, XM_047418054.1:c.240C>G, XM_047418044.1:c.240C>G, XM_047418059.1:c.240C>G, XM_047418058.1:c.240C>G, XM_047418061.1:c.240C>G, XM_047418045.1:c.240C>G, XM_047418042.1:c.240C>G, XM_047418071.1:c.240C>G, XM_047418056.1:c.240C>G, XM_047418060.1:c.240C>G, XM_047418069.1:c.240C>G, XM_047418049.1:c.240C>G, XM_047418070.1:c.240C>G, XM_047418073.1:c.201C>G, XM_047418062.1:c.240C>G, XM_047418063.1:c.240C>G, XM_047418043.1:c.240C>G, XM_047418067.1:c.240C>G, XM_047418072.1:c.201C>G, XM_047418055.1:c.240C>G, XM_047418076.1:c.201C>G, XM_047418078.1:c.201C>G, XM_047418068.1:c.240C>G, XM_047418074.1:c.201C>G, NP_002065.1:p.Ile80Met, NP_001269468.1:p.Ile80Met, XP_016856549.1:p.Ile80Met, XP_016856550.1:p.Ile80Met, XP_016856548.1:p.Ile80Met, XP_024302263.1:p.Ile80Met, XP_047274013.1:p.Ile80Met, XP_047274002.1:p.Ile80Met, XP_047274006.1:p.Ile80Met, XP_047274010.1:p.Ile80Met, XP_047274000.1:p.Ile80Met, XP_047274015.1:p.Ile80Met, XP_047274014.1:p.Ile80Met, XP_047274017.1:p.Ile80Met, XP_047274001.1:p.Ile80Met, XP_047273998.1:p.Ile80Met, XP_047274027.1:p.Ile80Met, XP_047274012.1:p.Ile80Met, XP_047274016.1:p.Ile80Met, XP_047274025.1:p.Ile80Met, XP_047274005.1:p.Ile80Met, XP_047274026.1:p.Ile80Met, XP_047274029.1:p.Ile67Met, XP_047274018.1:p.Ile80Met, XP_047274019.1:p.Ile80Met, XP_047273999.1:p.Ile80Met, XP_047274023.1:p.Ile80Met, XP_047274028.1:p.Ile67Met, XP_047274011.1:p.Ile80Met, XP_047274032.1:p.Ile67Met, XP_047274034.1:p.Ile67Met, XP_047274024.1:p.Ile80Met, XP_047274030.1:p.Ile67Met

                                      19.

                                      rs1400070680 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:1804454 (GRCh38)
                                        1:1735893 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:1804453:T:C
                                        Gene:
                                        GNB1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.1804454T>C, NC_000001.10:g.1735893T>C, NG_047052.1:g.91664A>G, NM_002074.5:c.395A>G, NM_002074.4:c.395A>G, NM_002074.3:c.395A>G, NM_001282539.1:c.395A>G, NM_001282539.2:c.395A>G, NM_001282538.1:c.95A>G, NM_001282538.2:c.95A>G, XM_017001060.3:c.395A>G, XM_017001060.2:c.395A>G, XM_017001060.1:c.395A>G, XM_017001061.3:c.395A>G, XM_017001061.2:c.395A>G, XM_017001061.1:c.395A>G, XM_017001059.3:c.395A>G, XM_017001059.2:c.395A>G, XM_017001059.1:c.395A>G, XM_024446495.2:c.395A>G, XM_024446495.1:c.395A>G, XM_047418057.1:c.395A>G, XM_047418046.1:c.395A>G, XM_047418050.1:c.395A>G, XM_047418054.1:c.395A>G, XM_047418044.1:c.395A>G, XM_047418059.1:c.395A>G, XM_047418058.1:c.395A>G, XM_047418061.1:c.395A>G, XM_047418045.1:c.395A>G, XM_047418042.1:c.395A>G, XM_047418071.1:c.395A>G, XM_047418056.1:c.395A>G, XM_047418060.1:c.395A>G, XM_047418069.1:c.395A>G, XM_047418049.1:c.395A>G, XM_047418070.1:c.395A>G, XM_047418073.1:c.356A>G, XM_047418062.1:c.395A>G, XM_047418063.1:c.395A>G, XM_047418043.1:c.395A>G, XM_047418067.1:c.395A>G, XM_047418072.1:c.356A>G, XM_047418055.1:c.395A>G, XM_047418076.1:c.356A>G, XM_047418078.1:c.356A>G, XM_047418068.1:c.395A>G, XM_047418074.1:c.356A>G, NP_002065.1:p.Asn132Ser, NP_001269468.1:p.Asn132Ser, NP_001269467.1:p.Asn32Ser, XP_016856549.1:p.Asn132Ser, XP_016856550.1:p.Asn132Ser, XP_016856548.1:p.Asn132Ser, XP_024302263.1:p.Asn132Ser, XP_047274013.1:p.Asn132Ser, XP_047274002.1:p.Asn132Ser, XP_047274006.1:p.Asn132Ser, XP_047274010.1:p.Asn132Ser, XP_047274000.1:p.Asn132Ser, XP_047274015.1:p.Asn132Ser, XP_047274014.1:p.Asn132Ser, XP_047274017.1:p.Asn132Ser, XP_047274001.1:p.Asn132Ser, XP_047273998.1:p.Asn132Ser, XP_047274027.1:p.Asn132Ser, XP_047274012.1:p.Asn132Ser, XP_047274016.1:p.Asn132Ser, XP_047274025.1:p.Asn132Ser, XP_047274005.1:p.Asn132Ser, XP_047274026.1:p.Asn132Ser, XP_047274029.1:p.Asn119Ser, XP_047274018.1:p.Asn132Ser, XP_047274019.1:p.Asn132Ser, XP_047273999.1:p.Asn132Ser, XP_047274023.1:p.Asn132Ser, XP_047274028.1:p.Asn119Ser, XP_047274011.1:p.Asn132Ser, XP_047274032.1:p.Asn119Ser, XP_047274034.1:p.Asn119Ser, XP_047274024.1:p.Asn132Ser, XP_047274030.1:p.Asn119Ser

                                        20.

                                        rs1398489197 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:1787433 (GRCh38)
                                          1:1718872 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:1787432:G:A
                                          Gene:
                                          GNB1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.1787433G>A, NC_000001.10:g.1718872G>A, NG_047052.1:g.108685C>T, NM_002074.5:c.921C>T, NM_002074.4:c.921C>T, NM_002074.3:c.921C>T, NM_001282539.1:c.921C>T, NM_001282539.2:c.921C>T, NM_001282538.1:c.621C>T, NM_001282538.2:c.621C>T, XM_017001060.3:c.921C>T, XM_017001060.2:c.921C>T, XM_017001060.1:c.921C>T, XM_017001061.3:c.921C>T, XM_017001061.2:c.921C>T, XM_017001061.1:c.921C>T, XM_017001059.3:c.921C>T, XM_017001059.2:c.921C>T, XM_017001059.1:c.921C>T, XM_024446495.2:c.921C>T, XM_024446495.1:c.921C>T, XM_047418057.1:c.921C>T, XM_047418046.1:c.921C>T, XM_047418050.1:c.921C>T, XM_047418054.1:c.921C>T, XM_047418044.1:c.921C>T, XM_047418059.1:c.921C>T, XM_047418058.1:c.921C>T, XM_047418061.1:c.921C>T, XM_047418045.1:c.921C>T, XM_047418042.1:c.921C>T, XM_047418071.1:c.921C>T, XM_047418056.1:c.921C>T, XM_047418060.1:c.921C>T, XM_047418069.1:c.921C>T, XM_047418049.1:c.921C>T, XM_047418070.1:c.921C>T, XM_047418073.1:c.882C>T, XM_047418062.1:c.921C>T, XM_047418063.1:c.921C>T, XM_047418043.1:c.921C>T, XM_047418067.1:c.921C>T, XM_047418072.1:c.882C>T, XM_047418055.1:c.921C>T, XM_047418076.1:c.882C>T, XM_047418078.1:c.882C>T, XM_047418068.1:c.921C>T, XM_047418074.1:c.882C>T

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