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Items: 1 to 20 of 1590

1.

rs1489368266 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:142481654 (GRCh38)
    8:143563015 (GRCh37)
    Canonical SPDI:
    NC_000008.11:142481653:G:A
    Gene:
    ADGRB1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:

    2.

    rs1489301868 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:142479366 (GRCh38)
      8:143560727 (GRCh37)
      Canonical SPDI:
      NC_000008.11:142479365:C:T
      Gene:
      ADGRB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000005/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1489096906 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:142542457 (GRCh38)
        8:143623818 (GRCh37)
        Canonical SPDI:
        NC_000008.11:142542456:C:T
        Gene:
        ADGRB1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000008.11:g.142542457C>T, NC_000008.10:g.143623818C>T, NM_001702.3:c.4223C>T, NM_001702.2:c.4223C>T, XM_017013691.2:c.4457C>T, XM_017013691.1:c.4457C>T, XM_017013692.2:c.4457C>T, XM_017013692.1:c.4457C>T, XM_017013693.2:c.4448C>T, XM_017013693.1:c.4448C>T, XM_017013694.2:c.4358C>T, XM_017013694.1:c.4358C>T, XM_017013695.2:c.4337C>T, XM_017013695.1:c.4337C>T, XM_017013696.2:c.4322C>T, XM_017013696.1:c.4322C>T, XM_017013697.2:c.4292C>T, XM_017013697.1:c.4292C>T, XM_047422056.1:c.4358C>T, XM_047422057.1:c.4337C>T, XM_047422058.1:c.4223C>T, XM_047422059.1:c.4322C>T, XM_047422060.1:c.4223C>T, NM_001391985.1:c.4214C>T, XM_047422061.1:c.4223C>T, NM_001391986.1:c.4205C>T, NM_001391987.1:c.1538C>T, NM_001391988.1:c.1403C>T, NP_001693.2:p.Pro1408Leu, XP_016869180.1:p.Pro1486Leu, XP_016869181.1:p.Pro1486Leu, XP_016869182.1:p.Pro1483Leu, XP_016869183.1:p.Pro1453Leu, XP_016869184.1:p.Pro1446Leu, XP_016869185.1:p.Pro1441Leu, XP_016869186.1:p.Pro1431Leu, XP_047278012.1:p.Pro1453Leu, XP_047278013.1:p.Pro1446Leu, XP_047278014.1:p.Pro1408Leu, XP_047278015.1:p.Pro1441Leu, XP_047278016.1:p.Pro1408Leu, NP_001378914.1:p.Pro1405Leu, XP_047278017.1:p.Pro1408Leu, NP_001378915.1:p.Pro1402Leu, NP_001378916.1:p.Pro513Leu, NP_001378917.1:p.Pro468Leu

        4.

        rs1488829655 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:142481557 (GRCh38)
          8:143562918 (GRCh37)
          Canonical SPDI:
          NC_000008.11:142481556:G:A
          Gene:
          ADGRB1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_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:
          NC_000008.11:g.142481557G>A, NC_000008.10:g.143562918G>A, NM_001702.3:c.1976G>A, NM_001702.2:c.1976G>A, XM_011517202.3:c.1976G>A, XM_011517202.2:c.1976G>A, XM_011517202.1:c.1976G>A, XM_017013691.2:c.1976G>A, XM_017013691.1:c.1976G>A, XM_017013692.2:c.1976G>A, XM_017013692.1:c.1976G>A, XM_017013693.2:c.1967G>A, XM_017013693.1:c.1967G>A, XM_017013694.2:c.1976G>A, XM_017013694.1:c.1976G>A, XM_017013695.2:c.1976G>A, XM_017013695.1:c.1976G>A, XM_017013696.2:c.1976G>A, XM_017013696.1:c.1976G>A, XM_017013697.2:c.1811G>A, XM_017013697.1:c.1811G>A, XM_047422056.1:c.1976G>A, XM_047422057.1:c.1976G>A, XM_047422058.1:c.1976G>A, XM_047422059.1:c.1976G>A, XM_047422060.1:c.1976G>A, NM_001391985.1:c.1967G>A, XM_047422061.1:c.1976G>A, NM_001391986.1:c.1976G>A, NP_001693.2:p.Gly659Glu, XP_011515504.1:p.Gly659Glu, XP_016869180.1:p.Gly659Glu, XP_016869181.1:p.Gly659Glu, XP_016869182.1:p.Gly656Glu, XP_016869183.1:p.Gly659Glu, XP_016869184.1:p.Gly659Glu, XP_016869185.1:p.Gly659Glu, XP_016869186.1:p.Gly604Glu, XP_047278012.1:p.Gly659Glu, XP_047278013.1:p.Gly659Glu, XP_047278014.1:p.Gly659Glu, XP_047278015.1:p.Gly659Glu, XP_047278016.1:p.Gly659Glu, NP_001378914.1:p.Gly656Glu, XP_047278017.1:p.Gly659Glu, NP_001378915.1:p.Gly659Glu

          5.

          rs1487354919 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:142542543 (GRCh38)
            8:143623904 (GRCh37)
            Canonical SPDI:
            NC_000008.11:142542542:C:T
            Gene:
            ADGRB1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000009/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.142542543C>T, NC_000008.10:g.143623904C>T, NM_001702.3:c.4309C>T, NM_001702.2:c.4309C>T, XM_017013691.2:c.4543C>T, XM_017013691.1:c.4543C>T, XM_017013692.2:c.4543C>T, XM_017013692.1:c.4543C>T, XM_017013693.2:c.4534C>T, XM_017013693.1:c.4534C>T, XM_017013694.2:c.4444C>T, XM_017013694.1:c.4444C>T, XM_017013695.2:c.4423C>T, XM_017013695.1:c.4423C>T, XM_017013696.2:c.4408C>T, XM_017013696.1:c.4408C>T, XM_017013697.2:c.4378C>T, XM_017013697.1:c.4378C>T, XM_047422056.1:c.4444C>T, XM_047422057.1:c.4423C>T, XM_047422058.1:c.4309C>T, XM_047422059.1:c.4408C>T, XM_047422060.1:c.4309C>T, NM_001391985.1:c.4300C>T, XM_047422061.1:c.4309C>T, NM_001391986.1:c.4291C>T, NM_001391987.1:c.1624C>T, NM_001391988.1:c.1489C>T, NP_001693.2:p.Pro1437Ser, XP_016869180.1:p.Pro1515Ser, XP_016869181.1:p.Pro1515Ser, XP_016869182.1:p.Pro1512Ser, XP_016869183.1:p.Pro1482Ser, XP_016869184.1:p.Pro1475Ser, XP_016869185.1:p.Pro1470Ser, XP_016869186.1:p.Pro1460Ser, XP_047278012.1:p.Pro1482Ser, XP_047278013.1:p.Pro1475Ser, XP_047278014.1:p.Pro1437Ser, XP_047278015.1:p.Pro1470Ser, XP_047278016.1:p.Pro1437Ser, NP_001378914.1:p.Pro1434Ser, XP_047278017.1:p.Pro1437Ser, NP_001378915.1:p.Pro1431Ser, NP_001378916.1:p.Pro542Ser, NP_001378917.1:p.Pro497Ser

            6.

            rs1486276876 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              8:142464706 (GRCh38)
              8:143546067 (GRCh37)
              Canonical SPDI:
              NC_000008.11:142464705:T:A
              Gene:
              ADGRB1 (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000008/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.142464706T>A, NC_000008.10:g.143546067T>A, NM_001702.3:c.508T>A, NM_001702.2:c.508T>A, XM_011517202.3:c.508T>A, XM_011517202.2:c.508T>A, XM_011517202.1:c.508T>A, XM_017013691.2:c.508T>A, XM_017013691.1:c.508T>A, XM_017013692.2:c.508T>A, XM_017013692.1:c.508T>A, XM_017013693.2:c.508T>A, XM_017013693.1:c.508T>A, XM_017013694.2:c.508T>A, XM_017013694.1:c.508T>A, XM_017013695.2:c.508T>A, XM_017013695.1:c.508T>A, XM_017013696.2:c.508T>A, XM_017013696.1:c.508T>A, XM_017013697.2:c.508T>A, XM_017013697.1:c.508T>A, XM_047422056.1:c.508T>A, XM_047422057.1:c.508T>A, XM_047422058.1:c.508T>A, XM_047422059.1:c.508T>A, XM_047422060.1:c.508T>A, NM_001391985.1:c.508T>A, XM_047422061.1:c.508T>A, NM_001391986.1:c.508T>A, NP_001693.2:p.Ser170Thr, XP_011515504.1:p.Ser170Thr, XP_016869180.1:p.Ser170Thr, XP_016869181.1:p.Ser170Thr, XP_016869182.1:p.Ser170Thr, XP_016869183.1:p.Ser170Thr, XP_016869184.1:p.Ser170Thr, XP_016869185.1:p.Ser170Thr, XP_016869186.1:p.Ser170Thr, XP_047278012.1:p.Ser170Thr, XP_047278013.1:p.Ser170Thr, XP_047278014.1:p.Ser170Thr, XP_047278015.1:p.Ser170Thr, XP_047278016.1:p.Ser170Thr, NP_001378914.1:p.Ser170Thr, XP_047278017.1:p.Ser170Thr, NP_001378915.1:p.Ser170Thr

              7.

              rs1486079710 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                8:142484757 (GRCh38)
                8:143566118 (GRCh37)
                Canonical SPDI:
                NC_000008.11:142484756:C:A
                Gene:
                ADGRB1 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000047/1 (ALFA)
                A=0.000009/2 (GnomAD_exomes)
                HGVS:
                NC_000008.11:g.142484757C>A, NC_000008.10:g.143566118C>A, NM_001702.3:c.2301C>A, NM_001702.2:c.2301C>A, XM_011517202.3:c.2301C>A, XM_011517202.2:c.2301C>A, XM_011517202.1:c.2301C>A, XM_017013691.2:c.2301C>A, XM_017013691.1:c.2301C>A, XM_017013692.2:c.2301C>A, XM_017013692.1:c.2301C>A, XM_017013693.2:c.2292C>A, XM_017013693.1:c.2292C>A, XM_017013694.2:c.2301C>A, XM_017013694.1:c.2301C>A, XM_017013695.2:c.2301C>A, XM_017013695.1:c.2301C>A, XM_017013696.2:c.2301C>A, XM_017013696.1:c.2301C>A, XM_017013697.2:c.2136C>A, XM_017013697.1:c.2136C>A, XM_047422056.1:c.2301C>A, XM_047422057.1:c.2301C>A, XM_047422058.1:c.2301C>A, XM_047422059.1:c.2301C>A, XM_047422060.1:c.2301C>A, NM_001391985.1:c.2292C>A, XM_047422061.1:c.2301C>A, NM_001391986.1:c.2301C>A, NP_001693.2:p.Asp767Glu, XP_011515504.1:p.Asp767Glu, XP_016869180.1:p.Asp767Glu, XP_016869181.1:p.Asp767Glu, XP_016869182.1:p.Asp764Glu, XP_016869183.1:p.Asp767Glu, XP_016869184.1:p.Asp767Glu, XP_016869185.1:p.Asp767Glu, XP_016869186.1:p.Asp712Glu, XP_047278012.1:p.Asp767Glu, XP_047278013.1:p.Asp767Glu, XP_047278014.1:p.Asp767Glu, XP_047278015.1:p.Asp767Glu, XP_047278016.1:p.Asp767Glu, NP_001378914.1:p.Asp764Glu, XP_047278017.1:p.Asp767Glu, NP_001378915.1:p.Asp767Glu

                8.

                rs1485989833 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  8:142542087 (GRCh38)
                  8:143623448 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:142542086:A:G
                  Gene:
                  ADGRB1 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  HGVS:
                  NC_000008.11:g.142542087A>G, NC_000008.10:g.143623448A>G, NM_001702.3:c.3853A>G, NM_001702.2:c.3853A>G, XM_017013691.2:c.4087A>G, XM_017013691.1:c.4087A>G, XM_017013692.2:c.4087A>G, XM_017013692.1:c.4087A>G, XM_017013693.2:c.4078A>G, XM_017013693.1:c.4078A>G, XM_017013694.2:c.3988A>G, XM_017013694.1:c.3988A>G, XM_017013695.2:c.3967A>G, XM_017013695.1:c.3967A>G, XM_017013696.2:c.3952A>G, XM_017013696.1:c.3952A>G, XM_017013697.2:c.3922A>G, XM_017013697.1:c.3922A>G, XM_047422056.1:c.3988A>G, XM_047422057.1:c.3967A>G, XM_047422058.1:c.3853A>G, XM_047422059.1:c.3952A>G, XM_047422060.1:c.3853A>G, NM_001391985.1:c.3844A>G, XM_047422061.1:c.3853A>G, NM_001391986.1:c.3835A>G, NM_001391987.1:c.1168A>G, NM_001391988.1:c.1033A>G, NP_001693.2:p.Lys1285Glu, XP_016869180.1:p.Lys1363Glu, XP_016869181.1:p.Lys1363Glu, XP_016869182.1:p.Lys1360Glu, XP_016869183.1:p.Lys1330Glu, XP_016869184.1:p.Lys1323Glu, XP_016869185.1:p.Lys1318Glu, XP_016869186.1:p.Lys1308Glu, XP_047278012.1:p.Lys1330Glu, XP_047278013.1:p.Lys1323Glu, XP_047278014.1:p.Lys1285Glu, XP_047278015.1:p.Lys1318Glu, XP_047278016.1:p.Lys1285Glu, NP_001378914.1:p.Lys1282Glu, XP_047278017.1:p.Lys1285Glu, NP_001378915.1:p.Lys1279Glu, NP_001378916.1:p.Lys390Glu, NP_001378917.1:p.Lys345Glu

                  9.

                  rs1485847113 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:142464649 (GRCh38)
                    8:143546010 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:142464648:C:T
                    Gene:
                    ADGRB1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/1 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.142464649C>T, NC_000008.10:g.143546010C>T, NM_001702.3:c.451C>T, NM_001702.2:c.451C>T, XM_011517202.3:c.451C>T, XM_011517202.2:c.451C>T, XM_011517202.1:c.451C>T, XM_017013691.2:c.451C>T, XM_017013691.1:c.451C>T, XM_017013692.2:c.451C>T, XM_017013692.1:c.451C>T, XM_017013693.2:c.451C>T, XM_017013693.1:c.451C>T, XM_017013694.2:c.451C>T, XM_017013694.1:c.451C>T, XM_017013695.2:c.451C>T, XM_017013695.1:c.451C>T, XM_017013696.2:c.451C>T, XM_017013696.1:c.451C>T, XM_017013697.2:c.451C>T, XM_017013697.1:c.451C>T, XM_047422056.1:c.451C>T, XM_047422057.1:c.451C>T, XM_047422058.1:c.451C>T, XM_047422059.1:c.451C>T, XM_047422060.1:c.451C>T, NM_001391985.1:c.451C>T, XM_047422061.1:c.451C>T, NM_001391986.1:c.451C>T, NP_001693.2:p.Pro151Ser, XP_011515504.1:p.Pro151Ser, XP_016869180.1:p.Pro151Ser, XP_016869181.1:p.Pro151Ser, XP_016869182.1:p.Pro151Ser, XP_016869183.1:p.Pro151Ser, XP_016869184.1:p.Pro151Ser, XP_016869185.1:p.Pro151Ser, XP_016869186.1:p.Pro151Ser, XP_047278012.1:p.Pro151Ser, XP_047278013.1:p.Pro151Ser, XP_047278014.1:p.Pro151Ser, XP_047278015.1:p.Pro151Ser, XP_047278016.1:p.Pro151Ser, NP_001378914.1:p.Pro151Ser, XP_047278017.1:p.Pro151Ser, NP_001378915.1:p.Pro151Ser

                    10.

                    rs1485297981 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:142464444 (GRCh38)
                      8:143545805 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:142464443:C:T
                      Gene:
                      ADGRB1 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      HGVS:

                      11.

                      rs1484862212 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:142526606 (GRCh38)
                        8:143607967 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:142526605:A:G
                        Gene:
                        ADGRB1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.142526606A>G, NC_000008.10:g.143607967A>G, NM_001702.3:c.3377A>G, NM_001702.2:c.3377A>G, XM_011517202.3:c.3377A>G, XM_011517202.2:c.3377A>G, XM_011517202.1:c.3377A>G, XM_017013691.2:c.3377A>G, XM_017013691.1:c.3377A>G, XM_017013692.2:c.3377A>G, XM_017013692.1:c.3377A>G, XM_017013693.2:c.3368A>G, XM_017013693.1:c.3368A>G, XM_017013694.2:c.3377A>G, XM_017013694.1:c.3377A>G, XM_017013695.2:c.3377A>G, XM_017013695.1:c.3377A>G, XM_017013696.2:c.3377A>G, XM_017013696.1:c.3377A>G, XM_017013697.2:c.3212A>G, XM_017013697.1:c.3212A>G, XM_047422056.1:c.3377A>G, XM_047422057.1:c.3377A>G, XM_047422058.1:c.3377A>G, XM_047422059.1:c.3377A>G, XM_047422060.1:c.3377A>G, NM_001391985.1:c.3368A>G, XM_047422061.1:c.3377A>G, NM_001391986.1:c.3359A>G, NM_001391987.1:c.557A>G, NM_001391988.1:c.557A>G, NP_001693.2:p.Lys1126Arg, XP_011515504.1:p.Lys1126Arg, XP_016869180.1:p.Lys1126Arg, XP_016869181.1:p.Lys1126Arg, XP_016869182.1:p.Lys1123Arg, XP_016869183.1:p.Lys1126Arg, XP_016869184.1:p.Lys1126Arg, XP_016869185.1:p.Lys1126Arg, XP_016869186.1:p.Lys1071Arg, XP_047278012.1:p.Lys1126Arg, XP_047278013.1:p.Lys1126Arg, XP_047278014.1:p.Lys1126Arg, XP_047278015.1:p.Lys1126Arg, XP_047278016.1:p.Lys1126Arg, NP_001378914.1:p.Lys1123Arg, XP_047278017.1:p.Lys1126Arg, NP_001378915.1:p.Lys1120Arg, NP_001378916.1:p.Lys186Arg, NP_001378917.1:p.Lys186Arg

                        12.

                        rs1484430374 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          8:142464783 (GRCh38)
                          8:143546144 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:142464782:G:A,NC_000008.11:142464782:G:C
                          Gene:
                          ADGRB1 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          A=0.000008/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.142464783G>A, NC_000008.11:g.142464783G>C, NC_000008.10:g.143546144G>A, NC_000008.10:g.143546144G>C, NM_001702.3:c.585G>A, NM_001702.3:c.585G>C, NM_001702.2:c.585G>A, NM_001702.2:c.585G>C, XM_011517202.3:c.585G>A, XM_011517202.3:c.585G>C, XM_011517202.2:c.585G>A, XM_011517202.2:c.585G>C, XM_011517202.1:c.585G>A, XM_011517202.1:c.585G>C, XM_017013691.2:c.585G>A, XM_017013691.2:c.585G>C, XM_017013691.1:c.585G>A, XM_017013691.1:c.585G>C, XM_017013692.2:c.585G>A, XM_017013692.2:c.585G>C, XM_017013692.1:c.585G>A, XM_017013692.1:c.585G>C, XM_017013693.2:c.585G>A, XM_017013693.2:c.585G>C, XM_017013693.1:c.585G>A, XM_017013693.1:c.585G>C, XM_017013694.2:c.585G>A, XM_017013694.2:c.585G>C, XM_017013694.1:c.585G>A, XM_017013694.1:c.585G>C, XM_017013695.2:c.585G>A, XM_017013695.2:c.585G>C, XM_017013695.1:c.585G>A, XM_017013695.1:c.585G>C, XM_017013696.2:c.585G>A, XM_017013696.2:c.585G>C, XM_017013696.1:c.585G>A, XM_017013696.1:c.585G>C, XM_017013697.2:c.585G>A, XM_017013697.2:c.585G>C, XM_017013697.1:c.585G>A, XM_017013697.1:c.585G>C, XM_047422056.1:c.585G>A, XM_047422056.1:c.585G>C, XM_047422057.1:c.585G>A, XM_047422057.1:c.585G>C, XM_047422058.1:c.585G>A, XM_047422058.1:c.585G>C, XM_047422059.1:c.585G>A, XM_047422059.1:c.585G>C, XM_047422060.1:c.585G>A, XM_047422060.1:c.585G>C, NM_001391985.1:c.585G>A, NM_001391985.1:c.585G>C, XM_047422061.1:c.585G>A, XM_047422061.1:c.585G>C, NM_001391986.1:c.585G>A, NM_001391986.1:c.585G>C

                          13.

                          rs1483810147 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            8:142542470 (GRCh38)
                            8:143623831 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:142542469:A:C,NC_000008.11:142542469:A:G
                            Gene:
                            ADGRB1 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00169/20 (ALFA)
                            C=0.00051/13 (TOMMO)
                            C=0.04929/125 (KOREAN)
                            A=0.5/1 (SGDP_PRJ)
                            HGVS:
                            NC_000008.11:g.142542470A>C, NC_000008.11:g.142542470A>G, NC_000008.10:g.143623831A>C, NC_000008.10:g.143623831A>G, NM_001702.3:c.4236A>C, NM_001702.3:c.4236A>G, NM_001702.2:c.4236A>C, NM_001702.2:c.4236A>G, XM_017013691.2:c.4470A>C, XM_017013691.2:c.4470A>G, XM_017013691.1:c.4470A>C, XM_017013691.1:c.4470A>G, XM_017013692.2:c.4470A>C, XM_017013692.2:c.4470A>G, XM_017013692.1:c.4470A>C, XM_017013692.1:c.4470A>G, XM_017013693.2:c.4461A>C, XM_017013693.2:c.4461A>G, XM_017013693.1:c.4461A>C, XM_017013693.1:c.4461A>G, XM_017013694.2:c.4371A>C, XM_017013694.2:c.4371A>G, XM_017013694.1:c.4371A>C, XM_017013694.1:c.4371A>G, XM_017013695.2:c.4350A>C, XM_017013695.2:c.4350A>G, XM_017013695.1:c.4350A>C, XM_017013695.1:c.4350A>G, XM_017013696.2:c.4335A>C, XM_017013696.2:c.4335A>G, XM_017013696.1:c.4335A>C, XM_017013696.1:c.4335A>G, XM_017013697.2:c.4305A>C, XM_017013697.2:c.4305A>G, XM_017013697.1:c.4305A>C, XM_017013697.1:c.4305A>G, XM_047422056.1:c.4371A>C, XM_047422056.1:c.4371A>G, XM_047422057.1:c.4350A>C, XM_047422057.1:c.4350A>G, XM_047422058.1:c.4236A>C, XM_047422058.1:c.4236A>G, XM_047422059.1:c.4335A>C, XM_047422059.1:c.4335A>G, XM_047422060.1:c.4236A>C, XM_047422060.1:c.4236A>G, NM_001391985.1:c.4227A>C, NM_001391985.1:c.4227A>G, XM_047422061.1:c.4236A>C, XM_047422061.1:c.4236A>G, NM_001391986.1:c.4218A>C, NM_001391986.1:c.4218A>G, NM_001391987.1:c.1551A>C, NM_001391987.1:c.1551A>G, NM_001391988.1:c.1416A>C, NM_001391988.1:c.1416A>G

                            14.

                            rs1483537810 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:142476662 (GRCh38)
                              8:143558023 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:142476661:C:T
                              Gene:
                              ADGRB1 (Varview), LOC124902075 (Varview)
                              Functional Consequence:
                              synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1482825679 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                8:142510949 (GRCh38)
                                8:143592310 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:142510948:C:A,NC_000008.11:142510948:C:G
                                Gene:
                                ADGRB1 (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000008.11:g.142510949C>A, NC_000008.11:g.142510949C>G, NC_000008.10:g.143592310C>A, NC_000008.10:g.143592310C>G, NM_001702.3:c.2693C>A, NM_001702.3:c.2693C>G, NM_001702.2:c.2693C>A, NM_001702.2:c.2693C>G, XM_011517202.3:c.2693C>A, XM_011517202.3:c.2693C>G, XM_011517202.2:c.2693C>A, XM_011517202.2:c.2693C>G, XM_011517202.1:c.2693C>A, XM_011517202.1:c.2693C>G, XM_017013691.2:c.2693C>A, XM_017013691.2:c.2693C>G, XM_017013691.1:c.2693C>A, XM_017013691.1:c.2693C>G, XM_017013692.2:c.2693C>A, XM_017013692.2:c.2693C>G, XM_017013692.1:c.2693C>A, XM_017013692.1:c.2693C>G, XM_017013693.2:c.2684C>A, XM_017013693.2:c.2684C>G, XM_017013693.1:c.2684C>A, XM_017013693.1:c.2684C>G, XM_017013694.2:c.2693C>A, XM_017013694.2:c.2693C>G, XM_017013694.1:c.2693C>A, XM_017013694.1:c.2693C>G, XM_017013695.2:c.2693C>A, XM_017013695.2:c.2693C>G, XM_017013695.1:c.2693C>A, XM_017013695.1:c.2693C>G, XM_017013696.2:c.2693C>A, XM_017013696.2:c.2693C>G, XM_017013696.1:c.2693C>A, XM_017013696.1:c.2693C>G, XM_017013697.2:c.2528C>A, XM_017013697.2:c.2528C>G, XM_017013697.1:c.2528C>A, XM_017013697.1:c.2528C>G, XM_047422056.1:c.2693C>A, XM_047422056.1:c.2693C>G, XM_047422057.1:c.2693C>A, XM_047422057.1:c.2693C>G, XM_047422058.1:c.2693C>A, XM_047422058.1:c.2693C>G, XM_047422059.1:c.2693C>A, XM_047422059.1:c.2693C>G, XM_047422060.1:c.2693C>A, XM_047422060.1:c.2693C>G, NM_001391985.1:c.2684C>A, NM_001391985.1:c.2684C>G, XM_047422061.1:c.2693C>A, XM_047422061.1:c.2693C>G, NM_001391986.1:c.2693C>A, NM_001391986.1:c.2693C>G, NM_001391987.1:c.-128C>A, NM_001391987.1:c.-128C>G, NM_001391988.1:c.-128C>A, NM_001391988.1:c.-128C>G, NP_001693.2:p.Pro898His, NP_001693.2:p.Pro898Arg, XP_011515504.1:p.Pro898His, XP_011515504.1:p.Pro898Arg, XP_016869180.1:p.Pro898His, XP_016869180.1:p.Pro898Arg, XP_016869181.1:p.Pro898His, XP_016869181.1:p.Pro898Arg, XP_016869182.1:p.Pro895His, XP_016869182.1:p.Pro895Arg, XP_016869183.1:p.Pro898His, XP_016869183.1:p.Pro898Arg, XP_016869184.1:p.Pro898His, XP_016869184.1:p.Pro898Arg, XP_016869185.1:p.Pro898His, XP_016869185.1:p.Pro898Arg, XP_016869186.1:p.Pro843His, XP_016869186.1:p.Pro843Arg, XP_047278012.1:p.Pro898His, XP_047278012.1:p.Pro898Arg, XP_047278013.1:p.Pro898His, XP_047278013.1:p.Pro898Arg, XP_047278014.1:p.Pro898His, XP_047278014.1:p.Pro898Arg, XP_047278015.1:p.Pro898His, XP_047278015.1:p.Pro898Arg, XP_047278016.1:p.Pro898His, XP_047278016.1:p.Pro898Arg, NP_001378914.1:p.Pro895His, NP_001378914.1:p.Pro895Arg, XP_047278017.1:p.Pro898His, XP_047278017.1:p.Pro898Arg, NP_001378915.1:p.Pro898His, NP_001378915.1:p.Pro898Arg

                                16.

                                rs1482697583 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:142475537 (GRCh38)
                                  8:143556898 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:142475536:C:T
                                  Gene:
                                  ADGRB1 (Varview), LOC124902075 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000008.11:g.142475537C>T, NC_000008.10:g.143556898C>T, NM_001702.3:c.848C>T, NM_001702.2:c.848C>T, XM_011517202.3:c.848C>T, XM_011517202.2:c.848C>T, XM_011517202.1:c.848C>T, XM_017013691.2:c.848C>T, XM_017013691.1:c.848C>T, XM_017013692.2:c.848C>T, XM_017013692.1:c.848C>T, XM_017013693.2:c.848C>T, XM_017013693.1:c.848C>T, XM_017013694.2:c.848C>T, XM_017013694.1:c.848C>T, XM_017013695.2:c.848C>T, XM_017013695.1:c.848C>T, XM_017013696.2:c.848C>T, XM_017013696.1:c.848C>T, XM_017013697.2:c.848C>T, XM_017013697.1:c.848C>T, XR_007061195.1:n.101G>A, XM_047422056.1:c.848C>T, XM_047422057.1:c.848C>T, XM_047422058.1:c.848C>T, XM_047422059.1:c.848C>T, XM_047422060.1:c.848C>T, NM_001391985.1:c.848C>T, XM_047422061.1:c.848C>T, NM_001391986.1:c.848C>T, NP_001693.2:p.Thr283Met, XP_011515504.1:p.Thr283Met, XP_016869180.1:p.Thr283Met, XP_016869181.1:p.Thr283Met, XP_016869182.1:p.Thr283Met, XP_016869183.1:p.Thr283Met, XP_016869184.1:p.Thr283Met, XP_016869185.1:p.Thr283Met, XP_016869186.1:p.Thr283Met, XP_047278012.1:p.Thr283Met, XP_047278013.1:p.Thr283Met, XP_047278014.1:p.Thr283Met, XP_047278015.1:p.Thr283Met, XP_047278016.1:p.Thr283Met, NP_001378914.1:p.Thr283Met, XP_047278017.1:p.Thr283Met, NP_001378915.1:p.Thr283Met

                                  17.

                                  rs1482546030 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:142542412 (GRCh38)
                                    8:143623773 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:142542411:C:T
                                    Gene:
                                    ADGRB1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000104/4 (ALFA)
                                    T=0.000029/4 (GnomAD)
                                    T=0.000036/5 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.142542412C>T, NC_000008.10:g.143623773C>T, NM_001702.3:c.4178C>T, NM_001702.2:c.4178C>T, XM_017013691.2:c.4412C>T, XM_017013691.1:c.4412C>T, XM_017013692.2:c.4412C>T, XM_017013692.1:c.4412C>T, XM_017013693.2:c.4403C>T, XM_017013693.1:c.4403C>T, XM_017013694.2:c.4313C>T, XM_017013694.1:c.4313C>T, XM_017013695.2:c.4292C>T, XM_017013695.1:c.4292C>T, XM_017013696.2:c.4277C>T, XM_017013696.1:c.4277C>T, XM_017013697.2:c.4247C>T, XM_017013697.1:c.4247C>T, XM_047422056.1:c.4313C>T, XM_047422057.1:c.4292C>T, XM_047422058.1:c.4178C>T, XM_047422059.1:c.4277C>T, XM_047422060.1:c.4178C>T, NM_001391985.1:c.4169C>T, XM_047422061.1:c.4178C>T, NM_001391986.1:c.4160C>T, NM_001391987.1:c.1493C>T, NM_001391988.1:c.1358C>T, NP_001693.2:p.Pro1393Leu, XP_016869180.1:p.Pro1471Leu, XP_016869181.1:p.Pro1471Leu, XP_016869182.1:p.Pro1468Leu, XP_016869183.1:p.Pro1438Leu, XP_016869184.1:p.Pro1431Leu, XP_016869185.1:p.Pro1426Leu, XP_016869186.1:p.Pro1416Leu, XP_047278012.1:p.Pro1438Leu, XP_047278013.1:p.Pro1431Leu, XP_047278014.1:p.Pro1393Leu, XP_047278015.1:p.Pro1426Leu, XP_047278016.1:p.Pro1393Leu, NP_001378914.1:p.Pro1390Leu, XP_047278017.1:p.Pro1393Leu, NP_001378915.1:p.Pro1387Leu, NP_001378916.1:p.Pro498Leu, NP_001378917.1:p.Pro453Leu

                                    18.

                                    rs1481575900 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:142528607 (GRCh38)
                                      8:143609968 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:142528606:C:T
                                      Gene:
                                      ADGRB1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1480969931 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        8:142488482 (GRCh38)
                                        8:143569843 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:142488481:G:C
                                        Gene:
                                        ADGRB1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.142488482G>C, NC_000008.10:g.143569843G>C, NM_001702.3:c.2427G>C, NM_001702.2:c.2427G>C, XM_011517202.3:c.2427G>C, XM_011517202.2:c.2427G>C, XM_011517202.1:c.2427G>C, XM_017013691.2:c.2427G>C, XM_017013691.1:c.2427G>C, XM_017013692.2:c.2427G>C, XM_017013692.1:c.2427G>C, XM_017013693.2:c.2418G>C, XM_017013693.1:c.2418G>C, XM_017013694.2:c.2427G>C, XM_017013694.1:c.2427G>C, XM_017013695.2:c.2427G>C, XM_017013695.1:c.2427G>C, XM_017013696.2:c.2427G>C, XM_017013696.1:c.2427G>C, XM_017013697.2:c.2262G>C, XM_017013697.1:c.2262G>C, XM_047422056.1:c.2427G>C, XM_047422057.1:c.2427G>C, XM_047422058.1:c.2427G>C, XM_047422059.1:c.2427G>C, XM_047422060.1:c.2427G>C, NM_001391985.1:c.2418G>C, XM_047422061.1:c.2427G>C, NM_001391986.1:c.2427G>C, NP_001693.2:p.Lys809Asn, XP_011515504.1:p.Lys809Asn, XP_016869180.1:p.Lys809Asn, XP_016869181.1:p.Lys809Asn, XP_016869182.1:p.Lys806Asn, XP_016869183.1:p.Lys809Asn, XP_016869184.1:p.Lys809Asn, XP_016869185.1:p.Lys809Asn, XP_016869186.1:p.Lys754Asn, XP_047278012.1:p.Lys809Asn, XP_047278013.1:p.Lys809Asn, XP_047278014.1:p.Lys809Asn, XP_047278015.1:p.Lys809Asn, XP_047278016.1:p.Lys809Asn, NP_001378914.1:p.Lys806Asn, XP_047278017.1:p.Lys809Asn, NP_001378915.1:p.Lys809Asn

                                        20.

                                        rs1480959221 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:142510952 (GRCh38)
                                          8:143592313 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:142510951:C:T
                                          Gene:
                                          ADGRB1 (Varview)
                                          Functional Consequence:
                                          missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.142510952C>T, NC_000008.10:g.143592313C>T, NM_001702.3:c.2696C>T, NM_001702.2:c.2696C>T, XM_011517202.3:c.2696C>T, XM_011517202.2:c.2696C>T, XM_011517202.1:c.2696C>T, XM_017013691.2:c.2696C>T, XM_017013691.1:c.2696C>T, XM_017013692.2:c.2696C>T, XM_017013692.1:c.2696C>T, XM_017013693.2:c.2687C>T, XM_017013693.1:c.2687C>T, XM_017013694.2:c.2696C>T, XM_017013694.1:c.2696C>T, XM_017013695.2:c.2696C>T, XM_017013695.1:c.2696C>T, XM_017013696.2:c.2696C>T, XM_017013696.1:c.2696C>T, XM_017013697.2:c.2531C>T, XM_017013697.1:c.2531C>T, XM_047422056.1:c.2696C>T, XM_047422057.1:c.2696C>T, XM_047422058.1:c.2696C>T, XM_047422059.1:c.2696C>T, XM_047422060.1:c.2696C>T, NM_001391985.1:c.2687C>T, XM_047422061.1:c.2696C>T, NM_001391986.1:c.2696C>T, NM_001391987.1:c.-125C>T, NM_001391988.1:c.-125C>T, NP_001693.2:p.Pro899Leu, XP_011515504.1:p.Pro899Leu, XP_016869180.1:p.Pro899Leu, XP_016869181.1:p.Pro899Leu, XP_016869182.1:p.Pro896Leu, XP_016869183.1:p.Pro899Leu, XP_016869184.1:p.Pro899Leu, XP_016869185.1:p.Pro899Leu, XP_016869186.1:p.Pro844Leu, XP_047278012.1:p.Pro899Leu, XP_047278013.1:p.Pro899Leu, XP_047278014.1:p.Pro899Leu, XP_047278015.1:p.Pro899Leu, XP_047278016.1:p.Pro899Leu, NP_001378914.1:p.Pro896Leu, XP_047278017.1:p.Pro899Leu, NP_001378915.1:p.Pro899Leu

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