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Items: 1 to 20 of 1320

1.

rs1489957149 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:20312938 (GRCh38)
    1:20639431 (GRCh37)
    Canonical SPDI:
    NC_000001.11:20312937:T:C
    Gene:
    VWA5B1 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000006/1 (GnomAD_exomes)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000001.11:g.20312938T>C, NC_000001.10:g.20639431T>C, XM_011540684.3:c.242T>C, XM_011540684.2:c.242T>C, XM_011540684.1:c.242T>C, XM_011540685.3:c.242T>C, XM_011540685.2:c.242T>C, XM_011540685.1:c.242T>C, XM_011540683.3:c.242T>C, XM_011540683.2:c.242T>C, XM_011540683.1:c.242T>C, XM_011540688.3:c.242T>C, XM_011540688.2:c.242T>C, XM_011540688.1:c.242T>C, NM_001039500.3:c.242T>C, NM_001039500.2:c.242T>C, XM_011540690.3:c.242T>C, XM_011540690.2:c.242T>C, XM_011540690.1:c.242T>C, XM_011540691.3:c.242T>C, XM_011540691.2:c.242T>C, XM_011540691.1:c.242T>C, XM_011540693.2:c.242T>C, XM_011540693.1:c.242T>C, XM_011540698.2:c.242T>C, XM_011540698.1:c.242T>C, NM_001377531.1:c.-18T>C, XM_047445799.1:c.242T>C, XP_011538986.1:p.Leu81Pro, XP_011538987.1:p.Leu81Pro, XP_011538985.1:p.Leu81Pro, XP_011538990.1:p.Leu81Pro, NP_001034589.2:p.Leu81Pro, XP_011538992.1:p.Leu81Pro, XP_011538993.1:p.Leu81Pro, XP_011538995.1:p.Leu81Pro, XP_011539000.1:p.Leu81Pro, XP_047301755.1:p.Leu81Pro

    2.

    rs1488927179 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      1:20343159 (GRCh38)
      1:20669652 (GRCh37)
      Canonical SPDI:
      NC_000001.11:20343158:A:C
      Gene:
      VWA5B1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.00002/3 (GnomAD_exomes)
      C=0.000156/1 (1000Genomes)
      HGVS:
      NC_000001.11:g.20343159A>C, NC_000001.10:g.20669652A>C, XM_006710360.4:c.1771A>C, XM_006710360.3:c.1771A>C, XM_006710360.2:c.1771A>C, XM_006710360.1:c.1543A>C, XM_011540684.3:c.2392A>C, XM_011540684.2:c.2392A>C, XM_011540684.1:c.2392A>C, XM_011540685.3:c.2392A>C, XM_011540685.2:c.2392A>C, XM_011540685.1:c.2392A>C, XM_011540683.3:c.2392A>C, XM_011540683.2:c.2392A>C, XM_011540683.1:c.2392A>C, XM_011540688.3:c.2392A>C, XM_011540688.2:c.2392A>C, XM_011540688.1:c.2392A>C, NM_001039500.3:c.2392A>C, NM_001039500.2:c.2392A>C, XM_011540690.3:c.2215A>C, XM_011540690.2:c.2215A>C, XM_011540690.1:c.2215A>C, XM_011540691.3:c.2206A>C, XM_011540691.2:c.2206A>C, XM_011540691.1:c.2206A>C, XM_011540697.3:c.1372A>C, XM_011540697.2:c.1372A>C, XM_011540697.1:c.1372A>C, XM_017000306.2:c.1372A>C, XM_017000306.1:c.1372A>C, XM_017000305.2:c.1444A>C, XM_017000305.1:c.1444A>C, XM_011540693.2:c.2392A>C, XM_011540693.1:c.2392A>C, NM_001377531.1:c.2077A>C, XM_047445799.1:c.2392A>C, NM_144623.1:c.613A>C, XP_006710423.2:p.Ser591Arg, XP_011538986.1:p.Ser798Arg, XP_011538987.1:p.Ser798Arg, XP_011538985.1:p.Ser798Arg, XP_011538990.1:p.Ser798Arg, NP_001034589.2:p.Ser798Arg, XP_011538992.1:p.Ser739Arg, XP_011538993.1:p.Ser736Arg, XP_011538999.1:p.Ser458Arg, XP_016855795.1:p.Ser458Arg, XP_016855794.1:p.Ser482Arg, XP_011538995.1:p.Ser798Arg, NP_001364460.1:p.Ser693Arg, XP_047301755.1:p.Ser798Arg

      3.

      rs1488636113 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:20327945 (GRCh38)
        1:20654438 (GRCh37)
        Canonical SPDI:
        NC_000001.11:20327944:T:C
        Gene:
        VWA5B1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000056/2 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000011/3 (TOPMED)
        C=0.000032/5 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.20327945T>C, NC_000001.10:g.20654438T>C, XM_006710360.4:c.578T>C, XM_006710360.3:c.578T>C, XM_006710360.2:c.578T>C, XM_006710360.1:c.350T>C, XM_011540684.3:c.1199T>C, XM_011540684.2:c.1199T>C, XM_011540684.1:c.1199T>C, XM_011540685.3:c.1199T>C, XM_011540685.2:c.1199T>C, XM_011540685.1:c.1199T>C, XM_011540683.3:c.1199T>C, XM_011540683.2:c.1199T>C, XM_011540683.1:c.1199T>C, XM_011540688.3:c.1199T>C, XM_011540688.2:c.1199T>C, XM_011540688.1:c.1199T>C, NM_001039500.3:c.1199T>C, NM_001039500.2:c.1199T>C, XM_011540690.3:c.1022T>C, XM_011540690.2:c.1022T>C, XM_011540690.1:c.1022T>C, XM_011540691.3:c.1199T>C, XM_011540691.2:c.1199T>C, XM_011540691.1:c.1199T>C, XM_011540697.3:c.179T>C, XM_011540697.2:c.179T>C, XM_011540697.1:c.179T>C, XM_017000306.2:c.179T>C, XM_017000306.1:c.179T>C, XM_017000305.2:c.251T>C, XM_017000305.1:c.251T>C, XM_011540693.2:c.1199T>C, XM_011540693.1:c.1199T>C, XM_011540698.2:c.1199T>C, XM_011540698.1:c.1199T>C, NM_001377531.1:c.884T>C, XM_047445799.1:c.1199T>C, XP_006710423.2:p.Ile193Thr, XP_011538986.1:p.Ile400Thr, XP_011538987.1:p.Ile400Thr, XP_011538985.1:p.Ile400Thr, XP_011538990.1:p.Ile400Thr, NP_001034589.2:p.Ile400Thr, XP_011538992.1:p.Ile341Thr, XP_011538993.1:p.Ile400Thr, XP_011538999.1:p.Ile60Thr, XP_016855795.1:p.Ile60Thr, XP_016855794.1:p.Ile84Thr, XP_011538995.1:p.Ile400Thr, XP_011539000.1:p.Ile400Thr, NP_001364460.1:p.Ile295Thr, XP_047301755.1:p.Ile400Thr

        4.

        rs1487256343 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:20314515 (GRCh38)
          1:20641008 (GRCh37)
          Canonical SPDI:
          NC_000001.11:20314514:T:C
          Gene:
          VWA5B1 (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)
          HGVS:

          5.

          rs1486670636 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:20332843 (GRCh38)
            1:20659336 (GRCh37)
            Canonical SPDI:
            NC_000001.11:20332842:T:G
            Gene:
            VWA5B1 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000047/1 (ALFA)
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.20332843T>G, NC_000001.10:g.20659336T>G, XM_006710360.4:c.1029T>G, XM_006710360.3:c.1029T>G, XM_006710360.2:c.1029T>G, XM_006710360.1:c.801T>G, XM_011540684.3:c.1650T>G, XM_011540684.2:c.1650T>G, XM_011540684.1:c.1650T>G, XM_011540685.3:c.1650T>G, XM_011540685.2:c.1650T>G, XM_011540685.1:c.1650T>G, XM_011540683.3:c.1650T>G, XM_011540683.2:c.1650T>G, XM_011540683.1:c.1650T>G, XM_011540688.3:c.1650T>G, XM_011540688.2:c.1650T>G, XM_011540688.1:c.1650T>G, NM_001039500.3:c.1650T>G, NM_001039500.2:c.1650T>G, XM_011540690.3:c.1473T>G, XM_011540690.2:c.1473T>G, XM_011540690.1:c.1473T>G, XM_011540697.3:c.630T>G, XM_011540697.2:c.630T>G, XM_011540697.1:c.630T>G, XM_017000306.2:c.630T>G, XM_017000306.1:c.630T>G, XM_017000305.2:c.702T>G, XM_017000305.1:c.702T>G, XM_011540693.2:c.1650T>G, XM_011540693.1:c.1650T>G, XM_011540698.2:c.1650T>G, XM_011540698.1:c.1650T>G, NM_001377531.1:c.1335T>G, XM_047445799.1:c.1650T>G

            6.

            rs1486036523 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:20318603 (GRCh38)
              1:20645096 (GRCh37)
              Canonical SPDI:
              NC_000001.11:20318602:C:T
              Gene:
              VWA5B1 (Varview)
              Functional Consequence:
              synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000021/3 (GnomAD)
              HGVS:
              NC_000001.11:g.20318603C>T, NC_000001.10:g.20645096C>T, XM_006710360.4:c.102C>T, XM_006710360.3:c.102C>T, XM_006710360.2:c.102C>T, XM_006710360.1:c.-127C>T, XM_011540684.3:c.723C>T, XM_011540684.2:c.723C>T, XM_011540684.1:c.723C>T, XM_011540685.3:c.723C>T, XM_011540685.2:c.723C>T, XM_011540685.1:c.723C>T, XM_011540683.3:c.723C>T, XM_011540683.2:c.723C>T, XM_011540683.1:c.723C>T, XM_011540688.3:c.723C>T, XM_011540688.2:c.723C>T, XM_011540688.1:c.723C>T, NM_001039500.3:c.723C>T, NM_001039500.2:c.723C>T, XM_011540690.3:c.723C>T, XM_011540690.2:c.723C>T, XM_011540690.1:c.723C>T, XM_011540691.3:c.723C>T, XM_011540691.2:c.723C>T, XM_011540691.1:c.723C>T, XM_011540693.2:c.723C>T, XM_011540693.1:c.723C>T, XM_011540698.2:c.723C>T, XM_011540698.1:c.723C>T, NM_001377531.1:c.408C>T, XM_047445799.1:c.723C>T

              7.

              rs1486019177 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                1:20314500 (GRCh38)
                1:20640993 (GRCh37)
                Canonical SPDI:
                NC_000001.11:20314499:G:C
                Gene:
                VWA5B1 (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=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1485757673 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:20330293 (GRCh38)
                  1:20656786 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:20330292:C:T
                  Gene:
                  VWA5B1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.20330293C>T, NC_000001.10:g.20656786C>T, XM_006710360.4:c.747C>T, XM_006710360.3:c.747C>T, XM_006710360.2:c.747C>T, XM_006710360.1:c.519C>T, XM_011540684.3:c.1368C>T, XM_011540684.2:c.1368C>T, XM_011540684.1:c.1368C>T, XM_011540685.3:c.1368C>T, XM_011540685.2:c.1368C>T, XM_011540685.1:c.1368C>T, XM_011540683.3:c.1368C>T, XM_011540683.2:c.1368C>T, XM_011540683.1:c.1368C>T, XM_011540688.3:c.1368C>T, XM_011540688.2:c.1368C>T, XM_011540688.1:c.1368C>T, NM_001039500.3:c.1368C>T, NM_001039500.2:c.1368C>T, XM_011540690.3:c.1191C>T, XM_011540690.2:c.1191C>T, XM_011540690.1:c.1191C>T, XM_011540691.3:c.1368C>T, XM_011540691.2:c.1368C>T, XM_011540691.1:c.1368C>T, XM_011540697.3:c.348C>T, XM_011540697.2:c.348C>T, XM_011540697.1:c.348C>T, XM_017000306.2:c.348C>T, XM_017000306.1:c.348C>T, XM_017000305.2:c.420C>T, XM_017000305.1:c.420C>T, XM_011540693.2:c.1368C>T, XM_011540693.1:c.1368C>T, XM_011540698.2:c.1368C>T, XM_011540698.1:c.1368C>T, NM_001377531.1:c.1053C>T, XM_047445799.1:c.1368C>T

                  9.

                  rs1485296175 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:20342512 (GRCh38)
                    1:20669005 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:20342511:C:T
                    Gene:
                    VWA5B1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000013/2 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.20342512C>T, NC_000001.10:g.20669005C>T, XM_006710360.4:c.1593C>T, XM_006710360.3:c.1593C>T, XM_006710360.2:c.1593C>T, XM_006710360.1:c.1365C>T, XM_011540684.3:c.2214C>T, XM_011540684.2:c.2214C>T, XM_011540684.1:c.2214C>T, XM_011540685.3:c.2214C>T, XM_011540685.2:c.2214C>T, XM_011540685.1:c.2214C>T, XM_011540683.3:c.2214C>T, XM_011540683.2:c.2214C>T, XM_011540683.1:c.2214C>T, XM_011540688.3:c.2214C>T, XM_011540688.2:c.2214C>T, XM_011540688.1:c.2214C>T, NM_001039500.3:c.2214C>T, NM_001039500.2:c.2214C>T, XM_011540690.3:c.2037C>T, XM_011540690.2:c.2037C>T, XM_011540690.1:c.2037C>T, XM_011540691.3:c.2028C>T, XM_011540691.2:c.2028C>T, XM_011540691.1:c.2028C>T, XM_011540697.3:c.1194C>T, XM_011540697.2:c.1194C>T, XM_011540697.1:c.1194C>T, XM_017000306.2:c.1194C>T, XM_017000306.1:c.1194C>T, XM_017000305.2:c.1266C>T, XM_017000305.1:c.1266C>T, XM_011540693.2:c.2214C>T, XM_011540693.1:c.2214C>T, NM_001377531.1:c.1899C>T, XM_047445799.1:c.2214C>T, NM_144623.1:c.435C>T

                    10.

                    rs1484967153 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:20343244 (GRCh38)
                      1:20669737 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:20343243:A:G
                      Gene:
                      VWA5B1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000001.11:g.20343244A>G, NC_000001.10:g.20669737A>G, XM_006710360.4:c.1856A>G, XM_006710360.3:c.1856A>G, XM_006710360.2:c.1856A>G, XM_006710360.1:c.1628A>G, XM_011540684.3:c.2477A>G, XM_011540684.2:c.2477A>G, XM_011540684.1:c.2477A>G, XM_011540685.3:c.2477A>G, XM_011540685.2:c.2477A>G, XM_011540685.1:c.2477A>G, XM_011540683.3:c.2477A>G, XM_011540683.2:c.2477A>G, XM_011540683.1:c.2477A>G, XM_011540688.3:c.2477A>G, XM_011540688.2:c.2477A>G, XM_011540688.1:c.2477A>G, NM_001039500.3:c.2477A>G, NM_001039500.2:c.2477A>G, XM_011540690.3:c.2300A>G, XM_011540690.2:c.2300A>G, XM_011540690.1:c.2300A>G, XM_011540691.3:c.2291A>G, XM_011540691.2:c.2291A>G, XM_011540691.1:c.2291A>G, XM_011540697.3:c.1457A>G, XM_011540697.2:c.1457A>G, XM_011540697.1:c.1457A>G, XM_017000306.2:c.1457A>G, XM_017000306.1:c.1457A>G, XM_017000305.2:c.1529A>G, XM_017000305.1:c.1529A>G, XM_011540693.2:c.2477A>G, XM_011540693.1:c.2477A>G, NM_001377531.1:c.2162A>G, XM_047445799.1:c.2477A>G, NM_144623.1:c.698A>G, XP_006710423.2:p.Glu619Gly, XP_011538986.1:p.Glu826Gly, XP_011538987.1:p.Glu826Gly, XP_011538985.1:p.Glu826Gly, XP_011538990.1:p.Glu826Gly, NP_001034589.2:p.Glu826Gly, XP_011538992.1:p.Glu767Gly, XP_011538993.1:p.Glu764Gly, XP_011538999.1:p.Glu486Gly, XP_016855795.1:p.Glu486Gly, XP_016855794.1:p.Glu510Gly, XP_011538995.1:p.Glu826Gly, NP_001364460.1:p.Glu721Gly, XP_047301755.1:p.Glu826Gly

                      11.

                      rs1484912172 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:20342607 (GRCh38)
                        1:20669100 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:20342606:T:C
                        Gene:
                        VWA5B1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.20342607T>C, NC_000001.10:g.20669100T>C, XM_006710360.4:c.1688T>C, XM_006710360.3:c.1688T>C, XM_006710360.2:c.1688T>C, XM_006710360.1:c.1460T>C, XM_011540684.3:c.2309T>C, XM_011540684.2:c.2309T>C, XM_011540684.1:c.2309T>C, XM_011540685.3:c.2309T>C, XM_011540685.2:c.2309T>C, XM_011540685.1:c.2309T>C, XM_011540683.3:c.2309T>C, XM_011540683.2:c.2309T>C, XM_011540683.1:c.2309T>C, XM_011540688.3:c.2309T>C, XM_011540688.2:c.2309T>C, XM_011540688.1:c.2309T>C, NM_001039500.3:c.2309T>C, NM_001039500.2:c.2309T>C, XM_011540690.3:c.2132T>C, XM_011540690.2:c.2132T>C, XM_011540690.1:c.2132T>C, XM_011540691.3:c.2123T>C, XM_011540691.2:c.2123T>C, XM_011540691.1:c.2123T>C, XM_011540697.3:c.1289T>C, XM_011540697.2:c.1289T>C, XM_011540697.1:c.1289T>C, XM_017000306.2:c.1289T>C, XM_017000306.1:c.1289T>C, XM_017000305.2:c.1361T>C, XM_017000305.1:c.1361T>C, XM_011540693.2:c.2309T>C, XM_011540693.1:c.2309T>C, NM_001377531.1:c.1994T>C, XM_047445799.1:c.2309T>C, NM_144623.1:c.530T>C, XP_006710423.2:p.Leu563Pro, XP_011538986.1:p.Leu770Pro, XP_011538987.1:p.Leu770Pro, XP_011538985.1:p.Leu770Pro, XP_011538990.1:p.Leu770Pro, NP_001034589.2:p.Leu770Pro, XP_011538992.1:p.Leu711Pro, XP_011538993.1:p.Leu708Pro, XP_011538999.1:p.Leu430Pro, XP_016855795.1:p.Leu430Pro, XP_016855794.1:p.Leu454Pro, XP_011538995.1:p.Leu770Pro, NP_001364460.1:p.Leu665Pro, XP_047301755.1:p.Leu770Pro

                        12.

                        rs1484524537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          1:20337815 (GRCh38)
                          1:20664308 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:20337814:G:T
                          Gene:
                          VWA5B1 (Varview), LOC124903870 (Varview)
                          Functional Consequence:
                          missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000006/1 (GnomAD_exomes)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000001.11:g.20337815G>T, NC_000001.10:g.20664308G>T, XM_006710360.4:c.1491G>T, XM_006710360.3:c.1491G>T, XM_006710360.2:c.1491G>T, XM_006710360.1:c.1263G>T, XM_011540684.3:c.2112G>T, XM_011540684.2:c.2112G>T, XM_011540684.1:c.2112G>T, XM_011540685.3:c.2112G>T, XM_011540685.2:c.2112G>T, XM_011540685.1:c.2112G>T, XM_011540683.3:c.2112G>T, XM_011540683.2:c.2112G>T, XM_011540683.1:c.2112G>T, XM_011540688.3:c.2112G>T, XM_011540688.2:c.2112G>T, XM_011540688.1:c.2112G>T, NM_001039500.3:c.2112G>T, NM_001039500.2:c.2112G>T, XM_011540690.3:c.1935G>T, XM_011540690.2:c.1935G>T, XM_011540690.1:c.1935G>T, XM_011540691.3:c.1926G>T, XM_011540691.2:c.1926G>T, XM_011540691.1:c.1926G>T, XM_011540697.3:c.1092G>T, XM_011540697.2:c.1092G>T, XM_011540697.1:c.1092G>T, XM_017000306.2:c.1092G>T, XM_017000306.1:c.1092G>T, XM_017000305.2:c.1164G>T, XM_017000305.1:c.1164G>T, XM_011540693.2:c.2112G>T, XM_011540693.1:c.2112G>T, XM_011540698.2:c.2112G>T, XM_011540698.1:c.2112G>T, NM_001377531.1:c.1797G>T, XM_047445799.1:c.2112G>T, NM_144623.1:c.333G>T, XP_006710423.2:p.Gln497His, XP_011538986.1:p.Gln704His, XP_011538987.1:p.Gln704His, XP_011538985.1:p.Gln704His, XP_011538990.1:p.Gln704His, NP_001034589.2:p.Gln704His, XP_011538992.1:p.Gln645His, XP_011538993.1:p.Gln642His, XP_011538999.1:p.Gln364His, XP_016855795.1:p.Gln364His, XP_016855794.1:p.Gln388His, XP_011538995.1:p.Gln704His, XP_011539000.1:p.Gln704His, NP_001364460.1:p.Gln599His, XP_047301755.1:p.Gln704His

                          13.

                          rs1484368045 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:20312861 (GRCh38)
                            1:20639354 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:20312860:G:A
                            Gene:
                            VWA5B1 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.000023/6 (TOPMED)
                            HGVS:

                            14.

                            rs1484141420 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:20348354 (GRCh38)
                              1:20674847 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:20348353:A:G
                              Gene:
                              VWA5B1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.20348354A>G, NC_000001.10:g.20674847A>G, XM_006710360.4:c.2253A>G, XM_006710360.3:c.2253A>G, XM_006710360.2:c.2253A>G, XM_006710360.1:c.2025A>G, XM_011540684.3:c.2874A>G, XM_011540684.2:c.2874A>G, XM_011540684.1:c.2874A>G, XM_011540685.3:c.2874A>G, XM_011540685.2:c.2874A>G, XM_011540685.1:c.2874A>G, XM_011540683.3:c.2874A>G, XM_011540683.2:c.2874A>G, XM_011540683.1:c.2874A>G, XM_011540688.3:c.2874A>G, XM_011540688.2:c.2874A>G, XM_011540688.1:c.2874A>G, NM_001039500.3:c.2874A>G, NM_001039500.2:c.2874A>G, XM_011540690.3:c.2697A>G, XM_011540690.2:c.2697A>G, XM_011540690.1:c.2697A>G, XM_011540691.3:c.2688A>G, XM_011540691.2:c.2688A>G, XM_011540691.1:c.2688A>G, XM_011540697.3:c.1854A>G, XM_011540697.2:c.1854A>G, XM_011540697.1:c.1854A>G, XM_017000306.2:c.1854A>G, XM_017000306.1:c.1854A>G, XM_017000305.2:c.1926A>G, XM_017000305.1:c.1926A>G, XM_011540693.2:c.2874A>G, XM_011540693.1:c.2874A>G, NM_001377531.1:c.2559A>G, NM_144623.1:c.1095A>G

                              15.

                              rs1483336742 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:20345495 (GRCh38)
                                1:20671988 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:20345494:G:C
                                Gene:
                                VWA5B1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.20345495G>C, NC_000001.10:g.20671988G>C, XM_006710360.4:c.2045G>C, XM_006710360.3:c.2045G>C, XM_006710360.2:c.2045G>C, XM_006710360.1:c.1817G>C, XM_011540684.3:c.2666G>C, XM_011540684.2:c.2666G>C, XM_011540684.1:c.2666G>C, XM_011540685.3:c.2666G>C, XM_011540685.2:c.2666G>C, XM_011540685.1:c.2666G>C, XM_011540683.3:c.2666G>C, XM_011540683.2:c.2666G>C, XM_011540683.1:c.2666G>C, XM_011540688.3:c.2666G>C, XM_011540688.2:c.2666G>C, XM_011540688.1:c.2666G>C, NM_001039500.3:c.2666G>C, NM_001039500.2:c.2666G>C, XM_011540690.3:c.2489G>C, XM_011540690.2:c.2489G>C, XM_011540690.1:c.2489G>C, XM_011540691.3:c.2480G>C, XM_011540691.2:c.2480G>C, XM_011540691.1:c.2480G>C, XM_011540697.3:c.1646G>C, XM_011540697.2:c.1646G>C, XM_011540697.1:c.1646G>C, XM_017000306.2:c.1646G>C, XM_017000306.1:c.1646G>C, XM_017000305.2:c.1718G>C, XM_017000305.1:c.1718G>C, XM_011540693.2:c.2666G>C, XM_011540693.1:c.2666G>C, NM_001377531.1:c.2351G>C, XM_047445799.1:c.2666G>C, NM_144623.1:c.887G>C, XP_006710423.2:p.Ser682Thr, XP_011538986.1:p.Ser889Thr, XP_011538987.1:p.Ser889Thr, XP_011538985.1:p.Ser889Thr, XP_011538990.1:p.Ser889Thr, NP_001034589.2:p.Ser889Thr, XP_011538992.1:p.Ser830Thr, XP_011538993.1:p.Ser827Thr, XP_011538999.1:p.Ser549Thr, XP_016855795.1:p.Ser549Thr, XP_016855794.1:p.Ser573Thr, XP_011538995.1:p.Ser889Thr, NP_001364460.1:p.Ser784Thr, XP_047301755.1:p.Ser889Thr

                                16.

                                rs1483116417 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,G [Show Flanks]
                                  Chromosome:
                                  1:20318704 (GRCh38)
                                  1:20645197 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:20318703:T:A,NC_000001.11:20318703:T:G
                                  Gene:
                                  VWA5B1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.20318704T>A, NC_000001.11:g.20318704T>G, NC_000001.10:g.20645197T>A, NC_000001.10:g.20645197T>G, XM_006710360.4:c.203T>A, XM_006710360.4:c.203T>G, XM_006710360.3:c.203T>A, XM_006710360.3:c.203T>G, XM_006710360.2:c.203T>A, XM_006710360.2:c.203T>G, XM_006710360.1:c.-26T>A, XM_006710360.1:c.-26T>G, XM_011540684.3:c.824T>A, XM_011540684.3:c.824T>G, XM_011540684.2:c.824T>A, XM_011540684.2:c.824T>G, XM_011540684.1:c.824T>A, XM_011540684.1:c.824T>G, XM_011540685.3:c.824T>A, XM_011540685.3:c.824T>G, XM_011540685.2:c.824T>A, XM_011540685.2:c.824T>G, XM_011540685.1:c.824T>A, XM_011540685.1:c.824T>G, XM_011540683.3:c.824T>A, XM_011540683.3:c.824T>G, XM_011540683.2:c.824T>A, XM_011540683.2:c.824T>G, XM_011540683.1:c.824T>A, XM_011540683.1:c.824T>G, XM_011540688.3:c.824T>A, XM_011540688.3:c.824T>G, XM_011540688.2:c.824T>A, XM_011540688.2:c.824T>G, XM_011540688.1:c.824T>A, XM_011540688.1:c.824T>G, NM_001039500.3:c.824T>A, NM_001039500.3:c.824T>G, NM_001039500.2:c.824T>A, NM_001039500.2:c.824T>G, XM_011540690.3:c.824T>A, XM_011540690.3:c.824T>G, XM_011540690.2:c.824T>A, XM_011540690.2:c.824T>G, XM_011540690.1:c.824T>A, XM_011540690.1:c.824T>G, XM_011540691.3:c.824T>A, XM_011540691.3:c.824T>G, XM_011540691.2:c.824T>A, XM_011540691.2:c.824T>G, XM_011540691.1:c.824T>A, XM_011540691.1:c.824T>G, XM_011540693.2:c.824T>A, XM_011540693.2:c.824T>G, XM_011540693.1:c.824T>A, XM_011540693.1:c.824T>G, XM_011540698.2:c.824T>A, XM_011540698.2:c.824T>G, XM_011540698.1:c.824T>A, XM_011540698.1:c.824T>G, NM_001377531.1:c.509T>A, NM_001377531.1:c.509T>G, XM_047445799.1:c.824T>A, XM_047445799.1:c.824T>G, XP_006710423.2:p.Ile68Asn, XP_006710423.2:p.Ile68Ser, XP_011538986.1:p.Ile275Asn, XP_011538986.1:p.Ile275Ser, XP_011538987.1:p.Ile275Asn, XP_011538987.1:p.Ile275Ser, XP_011538985.1:p.Ile275Asn, XP_011538985.1:p.Ile275Ser, XP_011538990.1:p.Ile275Asn, XP_011538990.1:p.Ile275Ser, NP_001034589.2:p.Ile275Asn, NP_001034589.2:p.Ile275Ser, XP_011538992.1:p.Ile275Asn, XP_011538992.1:p.Ile275Ser, XP_011538993.1:p.Ile275Asn, XP_011538993.1:p.Ile275Ser, XP_011538995.1:p.Ile275Asn, XP_011538995.1:p.Ile275Ser, XP_011539000.1:p.Ile275Asn, XP_011539000.1:p.Ile275Ser, NP_001364460.1:p.Ile170Asn, NP_001364460.1:p.Ile170Ser, XP_047301755.1:p.Ile275Asn, XP_047301755.1:p.Ile275Ser

                                  17.

                                  rs1482776916 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:20354179 (GRCh38)
                                    1:20680672 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:20354178:T:C
                                    Gene:
                                    VWA5B1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.20354179T>C, NC_000001.10:g.20680672T>C, XM_006710360.4:c.2943T>C, XM_006710360.3:c.2943T>C, XM_006710360.2:c.2943T>C, XM_006710360.1:c.2715T>C, XM_011540684.3:c.3564T>C, XM_011540684.2:c.3564T>C, XM_011540684.1:c.3564T>C, XM_011540685.3:c.3564T>C, XM_011540685.2:c.3564T>C, XM_011540685.1:c.3564T>C, XM_011540683.3:c.3564T>C, XM_011540683.2:c.3564T>C, XM_011540683.1:c.3564T>C, XM_011540688.3:c.3489T>C, XM_011540688.2:c.3489T>C, XM_011540688.1:c.3489T>C, NM_001039500.3:c.3564T>C, NM_001039500.2:c.3564T>C, XM_011540690.3:c.3387T>C, XM_011540690.2:c.3387T>C, XM_011540690.1:c.3387T>C, XM_011540691.3:c.3378T>C, XM_011540691.2:c.3378T>C, XM_011540691.1:c.3378T>C, XM_011540697.3:c.2544T>C, XM_011540697.2:c.2544T>C, XM_011540697.1:c.2544T>C, XM_017000306.2:c.2544T>C, XM_017000306.1:c.2544T>C, XM_017000305.2:c.2616T>C, XM_017000305.1:c.2616T>C, NM_001377531.1:c.3249T>C, NM_144623.1:c.*711T>C

                                    18.

                                    rs1482006270 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:20348298 (GRCh38)
                                      1:20674791 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:20348297:A:T
                                      Gene:
                                      VWA5B1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.20348298A>T, NC_000001.10:g.20674791A>T, XM_006710360.4:c.2197A>T, XM_006710360.3:c.2197A>T, XM_006710360.2:c.2197A>T, XM_006710360.1:c.1969A>T, XM_011540684.3:c.2818A>T, XM_011540684.2:c.2818A>T, XM_011540684.1:c.2818A>T, XM_011540685.3:c.2818A>T, XM_011540685.2:c.2818A>T, XM_011540685.1:c.2818A>T, XM_011540683.3:c.2818A>T, XM_011540683.2:c.2818A>T, XM_011540683.1:c.2818A>T, XM_011540688.3:c.2818A>T, XM_011540688.2:c.2818A>T, XM_011540688.1:c.2818A>T, NM_001039500.3:c.2818A>T, NM_001039500.2:c.2818A>T, XM_011540690.3:c.2641A>T, XM_011540690.2:c.2641A>T, XM_011540690.1:c.2641A>T, XM_011540691.3:c.2632A>T, XM_011540691.2:c.2632A>T, XM_011540691.1:c.2632A>T, XM_011540697.3:c.1798A>T, XM_011540697.2:c.1798A>T, XM_011540697.1:c.1798A>T, XM_017000306.2:c.1798A>T, XM_017000306.1:c.1798A>T, XM_017000305.2:c.1870A>T, XM_017000305.1:c.1870A>T, XM_011540693.2:c.2818A>T, XM_011540693.1:c.2818A>T, NM_001377531.1:c.2503A>T, XM_047445799.1:c.*91A>T, NM_144623.1:c.1039A>T, XP_006710423.2:p.Thr733Ser, XP_011538986.1:p.Thr940Ser, XP_011538987.1:p.Thr940Ser, XP_011538985.1:p.Thr940Ser, XP_011538990.1:p.Thr940Ser, NP_001034589.2:p.Thr940Ser, XP_011538992.1:p.Thr881Ser, XP_011538993.1:p.Thr878Ser, XP_011538999.1:p.Thr600Ser, XP_016855795.1:p.Thr600Ser, XP_016855794.1:p.Thr624Ser, XP_011538995.1:p.Thr940Ser, NP_001364460.1:p.Thr835Ser

                                      19.

                                      rs1481603665 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        1:20319424 (GRCh38)
                                        1:20645917 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:20319423:C:A,NC_000001.11:20319423:C:T
                                        Gene:
                                        VWA5B1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.20319424C>A, NC_000001.11:g.20319424C>T, NC_000001.10:g.20645917C>A, NC_000001.10:g.20645917C>T, XM_006710360.4:c.263C>A, XM_006710360.4:c.263C>T, XM_006710360.3:c.263C>A, XM_006710360.3:c.263C>T, XM_006710360.2:c.263C>A, XM_006710360.2:c.263C>T, XM_006710360.1:c.35C>A, XM_006710360.1:c.35C>T, XM_011540684.3:c.884C>A, XM_011540684.3:c.884C>T, XM_011540684.2:c.884C>A, XM_011540684.2:c.884C>T, XM_011540684.1:c.884C>A, XM_011540684.1:c.884C>T, XM_011540685.3:c.884C>A, XM_011540685.3:c.884C>T, XM_011540685.2:c.884C>A, XM_011540685.2:c.884C>T, XM_011540685.1:c.884C>A, XM_011540685.1:c.884C>T, XM_011540683.3:c.884C>A, XM_011540683.3:c.884C>T, XM_011540683.2:c.884C>A, XM_011540683.2:c.884C>T, XM_011540683.1:c.884C>A, XM_011540683.1:c.884C>T, XM_011540688.3:c.884C>A, XM_011540688.3:c.884C>T, XM_011540688.2:c.884C>A, XM_011540688.2:c.884C>T, XM_011540688.1:c.884C>A, XM_011540688.1:c.884C>T, NM_001039500.3:c.884C>A, NM_001039500.3:c.884C>T, NM_001039500.2:c.884C>A, NM_001039500.2:c.884C>T, XM_011540690.3:c.884C>A, XM_011540690.3:c.884C>T, XM_011540690.2:c.884C>A, XM_011540690.2:c.884C>T, XM_011540690.1:c.884C>A, XM_011540690.1:c.884C>T, XM_011540691.3:c.884C>A, XM_011540691.3:c.884C>T, XM_011540691.2:c.884C>A, XM_011540691.2:c.884C>T, XM_011540691.1:c.884C>A, XM_011540691.1:c.884C>T, XM_011540693.2:c.884C>A, XM_011540693.2:c.884C>T, XM_011540693.1:c.884C>A, XM_011540693.1:c.884C>T, XM_011540698.2:c.884C>A, XM_011540698.2:c.884C>T, XM_011540698.1:c.884C>A, XM_011540698.1:c.884C>T, NM_001377531.1:c.569C>A, NM_001377531.1:c.569C>T, XM_047445799.1:c.884C>A, XM_047445799.1:c.884C>T, XP_006710423.2:p.Thr88Asn, XP_006710423.2:p.Thr88Ile, XP_011538986.1:p.Thr295Asn, XP_011538986.1:p.Thr295Ile, XP_011538987.1:p.Thr295Asn, XP_011538987.1:p.Thr295Ile, XP_011538985.1:p.Thr295Asn, XP_011538985.1:p.Thr295Ile, XP_011538990.1:p.Thr295Asn, XP_011538990.1:p.Thr295Ile, NP_001034589.2:p.Thr295Asn, NP_001034589.2:p.Thr295Ile, XP_011538992.1:p.Thr295Asn, XP_011538992.1:p.Thr295Ile, XP_011538993.1:p.Thr295Asn, XP_011538993.1:p.Thr295Ile, XP_011538995.1:p.Thr295Asn, XP_011538995.1:p.Thr295Ile, XP_011539000.1:p.Thr295Asn, XP_011539000.1:p.Thr295Ile, NP_001364460.1:p.Thr190Asn, NP_001364460.1:p.Thr190Ile, XP_047301755.1:p.Thr295Asn, XP_047301755.1:p.Thr295Ile

                                        20.

                                        rs1481281781 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:20353995 (GRCh38)
                                          1:20680488 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:20353994:T:C
                                          Gene:
                                          VWA5B1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.20353995T>C, NC_000001.10:g.20680488T>C, XM_006710360.4:c.2759T>C, XM_006710360.3:c.2759T>C, XM_006710360.2:c.2759T>C, XM_006710360.1:c.2531T>C, XM_011540684.3:c.3380T>C, XM_011540684.2:c.3380T>C, XM_011540684.1:c.3380T>C, XM_011540685.3:c.3380T>C, XM_011540685.2:c.3380T>C, XM_011540685.1:c.3380T>C, XM_011540683.3:c.3380T>C, XM_011540683.2:c.3380T>C, XM_011540683.1:c.3380T>C, XM_011540688.3:c.3305T>C, XM_011540688.2:c.3305T>C, XM_011540688.1:c.3305T>C, NM_001039500.3:c.3380T>C, NM_001039500.2:c.3380T>C, XM_011540690.3:c.3203T>C, XM_011540690.2:c.3203T>C, XM_011540690.1:c.3203T>C, XM_011540691.3:c.3194T>C, XM_011540691.2:c.3194T>C, XM_011540691.1:c.3194T>C, XM_011540697.3:c.2360T>C, XM_011540697.2:c.2360T>C, XM_011540697.1:c.2360T>C, XM_017000306.2:c.2360T>C, XM_017000306.1:c.2360T>C, XM_017000305.2:c.2432T>C, XM_017000305.1:c.2432T>C, NM_001377531.1:c.3065T>C, NM_144623.1:c.*527T>C, XP_006710423.2:p.Leu920Pro, XP_011538986.1:p.Leu1127Pro, XP_011538987.1:p.Leu1127Pro, XP_011538985.1:p.Leu1127Pro, XP_011538990.1:p.Leu1102Pro, NP_001034589.2:p.Leu1127Pro, XP_011538992.1:p.Leu1068Pro, XP_011538993.1:p.Leu1065Pro, XP_011538999.1:p.Leu787Pro, XP_016855795.1:p.Leu787Pro, XP_016855794.1:p.Leu811Pro, NP_001364460.1:p.Leu1022Pro

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