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Items: 1 to 20 of 659

1.

rs1489209249 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:56792280 (GRCh38)
    1:57257953 (GRCh37)
    Canonical SPDI:
    NC_000001.11:56792279:G:A
    Gene:
    FYB2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000028/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000001.11:g.56792280G>A, NC_000001.10:g.57257953G>A, NM_001004303.5:c.533C>T, NM_001004303.4:c.533C>T, XM_005270584.4:c.533C>T, XM_005270584.3:c.533C>T, XM_005270584.2:c.533C>T, XM_005270584.1:c.533C>T, XM_011540900.3:c.533C>T, XM_011540900.2:c.533C>T, XM_011540900.1:c.533C>T, XR_946572.3:n.647C>T, XR_946572.2:n.939C>T, XR_946572.1:n.939C>T, XM_011540903.3:c.533C>T, XM_011540903.2:c.533C>T, XM_011540903.1:c.533C>T, XM_011540905.3:c.533C>T, XM_011540905.2:c.533C>T, XM_011540905.1:c.533C>T, XR_001737026.2:n.647C>T, XR_001737026.1:n.939C>T, XM_011540898.2:c.533C>T, XM_011540898.1:c.533C>T, XM_011540899.2:c.533C>T, XM_011540899.1:c.533C>T, XR_946570.2:n.647C>T, XR_946570.1:n.939C>T, XM_017000548.2:c.533C>T, XM_017000548.1:c.533C>T, XR_007095698.1:n.647C>T, XM_047448402.1:c.143C>T, XM_047448401.1:c.143C>T, XM_047448400.1:c.533C>T, XM_047448403.1:c.533C>T, XR_007095697.1:n.647C>T, XM_047448410.1:c.533C>T, NP_001004303.3:p.Thr178Ile, XP_005270641.1:p.Thr178Ile, XP_011539202.1:p.Thr178Ile, XP_011539205.1:p.Thr178Ile, XP_011539207.1:p.Thr178Ile, XP_011539200.1:p.Thr178Ile, XP_011539201.1:p.Thr178Ile, XP_016856037.1:p.Thr178Ile, XP_047304358.1:p.Thr48Ile, XP_047304357.1:p.Thr48Ile, XP_047304356.1:p.Thr178Ile, XP_047304359.1:p.Thr178Ile, XP_047304366.1:p.Thr178Ile

    2.

    rs1488320855 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:56792607 (GRCh38)
      1:57258280 (GRCh37)
      Canonical SPDI:
      NC_000001.11:56792606:C:G
      Gene:
      FYB2 (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.56792607C>G, NC_000001.10:g.57258280C>G, NM_001004303.5:c.206G>C, NM_001004303.4:c.206G>C, XM_005270584.4:c.206G>C, XM_005270584.3:c.206G>C, XM_005270584.2:c.206G>C, XM_005270584.1:c.206G>C, XM_011540900.3:c.206G>C, XM_011540900.2:c.206G>C, XM_011540900.1:c.206G>C, XR_946572.3:n.320G>C, XR_946572.2:n.612G>C, XR_946572.1:n.612G>C, XM_011540903.3:c.206G>C, XM_011540903.2:c.206G>C, XM_011540903.1:c.206G>C, XM_011540905.3:c.206G>C, XM_011540905.2:c.206G>C, XM_011540905.1:c.206G>C, XR_001737026.2:n.320G>C, XR_001737026.1:n.612G>C, XM_011540898.2:c.206G>C, XM_011540898.1:c.206G>C, XM_011540899.2:c.206G>C, XM_011540899.1:c.206G>C, XR_946570.2:n.320G>C, XR_946570.1:n.612G>C, XM_017000548.2:c.206G>C, XM_017000548.1:c.206G>C, XR_007095698.1:n.320G>C, XM_047448402.1:c.-185G>C, XM_047448401.1:c.-185G>C, XM_047448400.1:c.206G>C, XM_047448403.1:c.206G>C, XR_007095697.1:n.320G>C, XM_047448410.1:c.206G>C, NP_001004303.3:p.Ser69Thr, XP_005270641.1:p.Ser69Thr, XP_011539202.1:p.Ser69Thr, XP_011539205.1:p.Ser69Thr, XP_011539207.1:p.Ser69Thr, XP_011539200.1:p.Ser69Thr, XP_011539201.1:p.Ser69Thr, XP_016856037.1:p.Ser69Thr, XP_047304356.1:p.Ser69Thr, XP_047304359.1:p.Ser69Thr, XP_047304366.1:p.Ser69Thr

      3.

      rs1487956378 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:56792496 (GRCh38)
        1:57258169 (GRCh37)
        Canonical SPDI:
        NC_000001.11:56792495:G:A
        Gene:
        FYB2 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.56792496G>A, NC_000001.10:g.57258169G>A, NM_001004303.5:c.317C>T, NM_001004303.4:c.317C>T, XM_005270584.4:c.317C>T, XM_005270584.3:c.317C>T, XM_005270584.2:c.317C>T, XM_005270584.1:c.317C>T, XM_011540900.3:c.317C>T, XM_011540900.2:c.317C>T, XM_011540900.1:c.317C>T, XR_946572.3:n.431C>T, XR_946572.2:n.723C>T, XR_946572.1:n.723C>T, XM_011540903.3:c.317C>T, XM_011540903.2:c.317C>T, XM_011540903.1:c.317C>T, XM_011540905.3:c.317C>T, XM_011540905.2:c.317C>T, XM_011540905.1:c.317C>T, XR_001737026.2:n.431C>T, XR_001737026.1:n.723C>T, XM_011540898.2:c.317C>T, XM_011540898.1:c.317C>T, XM_011540899.2:c.317C>T, XM_011540899.1:c.317C>T, XR_946570.2:n.431C>T, XR_946570.1:n.723C>T, XM_017000548.2:c.317C>T, XM_017000548.1:c.317C>T, XR_007095698.1:n.431C>T, XM_047448402.1:c.-74C>T, XM_047448401.1:c.-74C>T, XM_047448400.1:c.317C>T, XM_047448403.1:c.317C>T, XR_007095697.1:n.431C>T, XM_047448410.1:c.317C>T, NP_001004303.3:p.Thr106Ile, XP_005270641.1:p.Thr106Ile, XP_011539202.1:p.Thr106Ile, XP_011539205.1:p.Thr106Ile, XP_011539207.1:p.Thr106Ile, XP_011539200.1:p.Thr106Ile, XP_011539201.1:p.Thr106Ile, XP_016856037.1:p.Thr106Ile, XP_047304356.1:p.Thr106Ile, XP_047304359.1:p.Thr106Ile, XP_047304366.1:p.Thr106Ile

        4.

        rs1486084954 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:56792518 (GRCh38)
          1:57258191 (GRCh37)
          Canonical SPDI:
          NC_000001.11:56792517:T:C
          Gene:
          FYB2 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.56792518T>C, NC_000001.10:g.57258191T>C, NM_001004303.5:c.295A>G, NM_001004303.4:c.295A>G, XM_005270584.4:c.295A>G, XM_005270584.3:c.295A>G, XM_005270584.2:c.295A>G, XM_005270584.1:c.295A>G, XM_011540900.3:c.295A>G, XM_011540900.2:c.295A>G, XM_011540900.1:c.295A>G, XR_946572.3:n.409A>G, XR_946572.2:n.701A>G, XR_946572.1:n.701A>G, XM_011540903.3:c.295A>G, XM_011540903.2:c.295A>G, XM_011540903.1:c.295A>G, XM_011540905.3:c.295A>G, XM_011540905.2:c.295A>G, XM_011540905.1:c.295A>G, XR_001737026.2:n.409A>G, XR_001737026.1:n.701A>G, XM_011540898.2:c.295A>G, XM_011540898.1:c.295A>G, XM_011540899.2:c.295A>G, XM_011540899.1:c.295A>G, XR_946570.2:n.409A>G, XR_946570.1:n.701A>G, XM_017000548.2:c.295A>G, XM_017000548.1:c.295A>G, XR_007095698.1:n.409A>G, XM_047448402.1:c.-96A>G, XM_047448401.1:c.-96A>G, XM_047448400.1:c.295A>G, XM_047448403.1:c.295A>G, XR_007095697.1:n.409A>G, XM_047448410.1:c.295A>G, NP_001004303.3:p.Lys99Glu, XP_005270641.1:p.Lys99Glu, XP_011539202.1:p.Lys99Glu, XP_011539205.1:p.Lys99Glu, XP_011539207.1:p.Lys99Glu, XP_011539200.1:p.Lys99Glu, XP_011539201.1:p.Lys99Glu, XP_016856037.1:p.Lys99Glu, XP_047304356.1:p.Lys99Glu, XP_047304359.1:p.Lys99Glu, XP_047304366.1:p.Lys99Glu

          5.

          rs1483159503 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:56792386 (GRCh38)
            1:57258059 (GRCh37)
            Canonical SPDI:
            NC_000001.11:56792385:A:G
            Gene:
            FYB2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000001.11:g.56792386A>G, NC_000001.10:g.57258059A>G, NM_001004303.5:c.427T>C, NM_001004303.4:c.427T>C, XM_005270584.4:c.427T>C, XM_005270584.3:c.427T>C, XM_005270584.2:c.427T>C, XM_005270584.1:c.427T>C, XM_011540900.3:c.427T>C, XM_011540900.2:c.427T>C, XM_011540900.1:c.427T>C, XR_946572.3:n.541T>C, XR_946572.2:n.833T>C, XR_946572.1:n.833T>C, XM_011540903.3:c.427T>C, XM_011540903.2:c.427T>C, XM_011540903.1:c.427T>C, XM_011540905.3:c.427T>C, XM_011540905.2:c.427T>C, XM_011540905.1:c.427T>C, XR_001737026.2:n.541T>C, XR_001737026.1:n.833T>C, XM_011540898.2:c.427T>C, XM_011540898.1:c.427T>C, XM_011540899.2:c.427T>C, XM_011540899.1:c.427T>C, XR_946570.2:n.541T>C, XR_946570.1:n.833T>C, XM_017000548.2:c.427T>C, XM_017000548.1:c.427T>C, XR_007095698.1:n.541T>C, XM_047448402.1:c.37T>C, XM_047448401.1:c.37T>C, XM_047448400.1:c.427T>C, XM_047448403.1:c.427T>C, XR_007095697.1:n.541T>C, XM_047448410.1:c.427T>C, NP_001004303.3:p.Trp143Arg, XP_005270641.1:p.Trp143Arg, XP_011539202.1:p.Trp143Arg, XP_011539205.1:p.Trp143Arg, XP_011539207.1:p.Trp143Arg, XP_011539200.1:p.Trp143Arg, XP_011539201.1:p.Trp143Arg, XP_016856037.1:p.Trp143Arg, XP_047304358.1:p.Trp13Arg, XP_047304357.1:p.Trp13Arg, XP_047304356.1:p.Trp143Arg, XP_047304359.1:p.Trp143Arg, XP_047304366.1:p.Trp143Arg

            6.

            rs1483077481 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:56792187 (GRCh38)
              1:57257860 (GRCh37)
              Canonical SPDI:
              NC_000001.11:56792186:A:G
              Gene:
              FYB2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000001.11:g.56792187A>G, NC_000001.10:g.57257860A>G, NM_001004303.5:c.626T>C, NM_001004303.4:c.626T>C, XM_005270584.4:c.626T>C, XM_005270584.3:c.626T>C, XM_005270584.2:c.626T>C, XM_005270584.1:c.626T>C, XM_011540900.3:c.626T>C, XM_011540900.2:c.626T>C, XM_011540900.1:c.626T>C, XR_946572.3:n.740T>C, XR_946572.2:n.1032T>C, XR_946572.1:n.1032T>C, XM_011540903.3:c.626T>C, XM_011540903.2:c.626T>C, XM_011540903.1:c.626T>C, XM_011540905.3:c.626T>C, XM_011540905.2:c.626T>C, XM_011540905.1:c.626T>C, XR_001737026.2:n.740T>C, XR_001737026.1:n.1032T>C, XM_011540898.2:c.626T>C, XM_011540898.1:c.626T>C, XM_011540899.2:c.626T>C, XM_011540899.1:c.626T>C, XR_946570.2:n.740T>C, XR_946570.1:n.1032T>C, XM_017000548.2:c.626T>C, XM_017000548.1:c.626T>C, XR_007095698.1:n.740T>C, XM_047448402.1:c.236T>C, XM_047448401.1:c.236T>C, XM_047448400.1:c.626T>C, XM_047448403.1:c.626T>C, XR_007095697.1:n.740T>C, XM_047448410.1:c.626T>C, NP_001004303.3:p.Val209Ala, XP_005270641.1:p.Val209Ala, XP_011539202.1:p.Val209Ala, XP_011539205.1:p.Val209Ala, XP_011539207.1:p.Val209Ala, XP_011539200.1:p.Val209Ala, XP_011539201.1:p.Val209Ala, XP_016856037.1:p.Val209Ala, XP_047304358.1:p.Val79Ala, XP_047304357.1:p.Val79Ala, XP_047304356.1:p.Val209Ala, XP_047304359.1:p.Val209Ala, XP_047304366.1:p.Val209Ala

              7.

              rs1479303939 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:56751121 (GRCh38)
                1:57216794 (GRCh37)
                Canonical SPDI:
                NC_000001.11:56751120:T:C
                Gene:
                FYB2 (Varview)
                Functional Consequence:
                downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                HGVS:
                NC_000001.11:g.56751121T>C, NC_000001.10:g.57216794T>C, NM_001004303.5:c.1310A>G, NM_001004303.4:c.1310A>G, XM_011540906.4:c.278A>G, XM_011540906.3:c.278A>G, XM_011540906.2:c.278A>G, XM_011540906.1:c.278A>G, XM_011540904.3:c.464A>G, XM_011540904.2:c.464A>G, XM_011540904.1:c.464A>G, XM_011540900.3:c.1388A>G, XM_011540900.2:c.1388A>G, XM_011540900.1:c.1388A>G, XR_946572.3:n.1502A>G, XR_946572.2:n.1794A>G, XR_946572.1:n.1794A>G, XM_011540903.3:c.1388A>G, XM_011540903.2:c.1388A>G, XM_011540903.1:c.1388A>G, XR_001737026.2:n.1502A>G, XR_001737026.1:n.1794A>G, XM_011540898.2:c.1388A>G, XM_011540898.1:c.1388A>G, XM_011540899.2:c.1388A>G, XM_011540899.1:c.1388A>G, XR_946570.2:n.1502A>G, XR_946570.1:n.1794A>G, XM_017000548.2:c.1388A>G, XM_017000548.1:c.1388A>G, XR_007095698.1:n.1502A>G, XM_047448402.1:c.998A>G, XM_047448401.1:c.998A>G, XM_047448400.1:c.1310A>G, XR_007095697.1:n.1502A>G, XM_047448410.1:c.1388A>G, NP_001004303.3:p.Gln437Arg, XP_011539208.1:p.Gln93Arg, XP_011539206.1:p.Gln155Arg, XP_011539202.1:p.Gln463Arg, XP_011539205.1:p.Gln463Arg, XP_011539200.1:p.Gln463Arg, XP_011539201.1:p.Gln463Arg, XP_016856037.1:p.Gln463Arg, XP_047304358.1:p.Gln333Arg, XP_047304357.1:p.Gln333Arg, XP_047304356.1:p.Gln437Arg, XP_047304366.1:p.Gln463Arg

                8.

                rs1477988746 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:56753904 (GRCh38)
                  1:57219577 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:56753903:T:C
                  Gene:
                  FYB2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000001.11:g.56753904T>C, NC_000001.10:g.57219577T>C, NM_001004303.5:c.1162A>G, NM_001004303.4:c.1162A>G, XM_011540906.4:c.130A>G, XM_011540906.3:c.130A>G, XM_011540906.2:c.130A>G, XM_011540906.1:c.130A>G, XM_011540904.3:c.316A>G, XM_011540904.2:c.316A>G, XM_011540904.1:c.316A>G, XM_011540900.3:c.1240A>G, XM_011540900.2:c.1240A>G, XM_011540900.1:c.1240A>G, XR_946572.3:n.1354A>G, XR_946572.2:n.1646A>G, XR_946572.1:n.1646A>G, XM_011540903.3:c.1240A>G, XM_011540903.2:c.1240A>G, XM_011540903.1:c.1240A>G, XR_001737026.2:n.1354A>G, XR_001737026.1:n.1646A>G, XM_011540898.2:c.1240A>G, XM_011540898.1:c.1240A>G, XM_011540899.2:c.1240A>G, XM_011540899.1:c.1240A>G, XR_946570.2:n.1354A>G, XR_946570.1:n.1646A>G, XM_017000548.2:c.1240A>G, XM_017000548.1:c.1240A>G, XR_007095698.1:n.1354A>G, XM_047448402.1:c.850A>G, XM_047448401.1:c.850A>G, XM_047448400.1:c.1162A>G, XR_007095697.1:n.1354A>G, XM_047448410.1:c.1240A>G, NP_001004303.3:p.Lys388Glu, XP_011539208.1:p.Lys44Glu, XP_011539206.1:p.Lys106Glu, XP_011539202.1:p.Lys414Glu, XP_011539205.1:p.Lys414Glu, XP_011539200.1:p.Lys414Glu, XP_011539201.1:p.Lys414Glu, XP_016856037.1:p.Lys414Glu, XP_047304358.1:p.Lys284Glu, XP_047304357.1:p.Lys284Glu, XP_047304356.1:p.Lys388Glu, XP_047304366.1:p.Lys414Glu

                  9.

                  rs1477519332 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:56767916 (GRCh38)
                    1:57233589 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:56767915:C:A
                    Gene:
                    FYB2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.56767916C>A, NC_000001.10:g.57233589C>A, NM_001004303.5:c.976G>T, NM_001004303.4:c.976G>T, XM_005270584.4:c.976G>T, XM_005270584.3:c.976G>T, XM_005270584.2:c.976G>T, XM_005270584.1:c.976G>T, XM_011540904.3:c.52G>T, XM_011540904.2:c.52G>T, XM_011540904.1:c.52G>T, XM_011540900.3:c.976G>T, XM_011540900.2:c.976G>T, XM_011540900.1:c.976G>T, XR_946572.3:n.1090G>T, XR_946572.2:n.1382G>T, XR_946572.1:n.1382G>T, XM_011540903.3:c.976G>T, XM_011540903.2:c.976G>T, XM_011540903.1:c.976G>T, XM_011540905.3:c.976G>T, XM_011540905.2:c.976G>T, XM_011540905.1:c.976G>T, XR_001737026.2:n.1090G>T, XR_001737026.1:n.1382G>T, XM_011540898.2:c.976G>T, XM_011540898.1:c.976G>T, XM_011540899.2:c.976G>T, XM_011540899.1:c.976G>T, XR_946570.2:n.1090G>T, XR_946570.1:n.1382G>T, XM_017000548.2:c.976G>T, XM_017000548.1:c.976G>T, XR_007095698.1:n.1090G>T, XM_047448402.1:c.586G>T, XM_047448401.1:c.586G>T, XM_047448400.1:c.976G>T, XM_047448403.1:c.976G>T, XR_007095697.1:n.1090G>T, XM_047448410.1:c.976G>T, NP_001004303.3:p.Glu326Ter, XP_005270641.1:p.Glu326Ter, XP_011539206.1:p.Glu18Ter, XP_011539202.1:p.Glu326Ter, XP_011539205.1:p.Glu326Ter, XP_011539207.1:p.Glu326Ter, XP_011539200.1:p.Glu326Ter, XP_011539201.1:p.Glu326Ter, XP_016856037.1:p.Glu326Ter, XP_047304358.1:p.Glu196Ter, XP_047304357.1:p.Glu196Ter, XP_047304356.1:p.Glu326Ter, XP_047304359.1:p.Glu326Ter, XP_047304366.1:p.Glu326Ter

                    10.

                    rs1475385685 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      1:56792193 (GRCh38)
                      1:57257866 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:56792192:T:C,NC_000001.11:56792192:T:G
                      Gene:
                      FYB2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000001.11:g.56792193T>C, NC_000001.11:g.56792193T>G, NC_000001.10:g.57257866T>C, NC_000001.10:g.57257866T>G, NM_001004303.5:c.620A>G, NM_001004303.5:c.620A>C, NM_001004303.4:c.620A>G, NM_001004303.4:c.620A>C, XM_005270584.4:c.620A>G, XM_005270584.4:c.620A>C, XM_005270584.3:c.620A>G, XM_005270584.3:c.620A>C, XM_005270584.2:c.620A>G, XM_005270584.2:c.620A>C, XM_005270584.1:c.620A>G, XM_005270584.1:c.620A>C, XM_011540900.3:c.620A>G, XM_011540900.3:c.620A>C, XM_011540900.2:c.620A>G, XM_011540900.2:c.620A>C, XM_011540900.1:c.620A>G, XM_011540900.1:c.620A>C, XR_946572.3:n.734A>G, XR_946572.3:n.734A>C, XR_946572.2:n.1026A>G, XR_946572.2:n.1026A>C, XR_946572.1:n.1026A>G, XR_946572.1:n.1026A>C, XM_011540903.3:c.620A>G, XM_011540903.3:c.620A>C, XM_011540903.2:c.620A>G, XM_011540903.2:c.620A>C, XM_011540903.1:c.620A>G, XM_011540903.1:c.620A>C, XM_011540905.3:c.620A>G, XM_011540905.3:c.620A>C, XM_011540905.2:c.620A>G, XM_011540905.2:c.620A>C, XM_011540905.1:c.620A>G, XM_011540905.1:c.620A>C, XR_001737026.2:n.734A>G, XR_001737026.2:n.734A>C, XR_001737026.1:n.1026A>G, XR_001737026.1:n.1026A>C, XM_011540898.2:c.620A>G, XM_011540898.2:c.620A>C, XM_011540898.1:c.620A>G, XM_011540898.1:c.620A>C, XM_011540899.2:c.620A>G, XM_011540899.2:c.620A>C, XM_011540899.1:c.620A>G, XM_011540899.1:c.620A>C, XR_946570.2:n.734A>G, XR_946570.2:n.734A>C, XR_946570.1:n.1026A>G, XR_946570.1:n.1026A>C, XM_017000548.2:c.620A>G, XM_017000548.2:c.620A>C, XM_017000548.1:c.620A>G, XM_017000548.1:c.620A>C, XR_007095698.1:n.734A>G, XR_007095698.1:n.734A>C, XM_047448402.1:c.230A>G, XM_047448402.1:c.230A>C, XM_047448401.1:c.230A>G, XM_047448401.1:c.230A>C, XM_047448400.1:c.620A>G, XM_047448400.1:c.620A>C, XM_047448403.1:c.620A>G, XM_047448403.1:c.620A>C, XR_007095697.1:n.734A>G, XR_007095697.1:n.734A>C, XM_047448410.1:c.620A>G, XM_047448410.1:c.620A>C, NP_001004303.3:p.His207Arg, NP_001004303.3:p.His207Pro, XP_005270641.1:p.His207Arg, XP_005270641.1:p.His207Pro, XP_011539202.1:p.His207Arg, XP_011539202.1:p.His207Pro, XP_011539205.1:p.His207Arg, XP_011539205.1:p.His207Pro, XP_011539207.1:p.His207Arg, XP_011539207.1:p.His207Pro, XP_011539200.1:p.His207Arg, XP_011539200.1:p.His207Pro, XP_011539201.1:p.His207Arg, XP_011539201.1:p.His207Pro, XP_016856037.1:p.His207Arg, XP_016856037.1:p.His207Pro, XP_047304358.1:p.His77Arg, XP_047304358.1:p.His77Pro, XP_047304357.1:p.His77Arg, XP_047304357.1:p.His77Pro, XP_047304356.1:p.His207Arg, XP_047304356.1:p.His207Pro, XP_047304359.1:p.His207Arg, XP_047304359.1:p.His207Pro, XP_047304366.1:p.His207Arg, XP_047304366.1:p.His207Pro

                      11.

                      rs1473672775 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:56792713 (GRCh38)
                        1:57258386 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:56792712:C:T
                        Gene:
                        FYB2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000028/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        C=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000001.11:g.56792713C>T, NC_000001.10:g.57258386C>T, NM_001004303.5:c.100G>A, NM_001004303.4:c.100G>A, XM_005270584.4:c.100G>A, XM_005270584.3:c.100G>A, XM_005270584.2:c.100G>A, XM_005270584.1:c.100G>A, XM_011540900.3:c.100G>A, XM_011540900.2:c.100G>A, XM_011540900.1:c.100G>A, XR_946572.3:n.214G>A, XR_946572.2:n.506G>A, XR_946572.1:n.506G>A, XM_011540903.3:c.100G>A, XM_011540903.2:c.100G>A, XM_011540903.1:c.100G>A, XM_011540905.3:c.100G>A, XM_011540905.2:c.100G>A, XM_011540905.1:c.100G>A, XR_001737026.2:n.214G>A, XR_001737026.1:n.506G>A, XM_011540898.2:c.100G>A, XM_011540898.1:c.100G>A, XM_011540899.2:c.100G>A, XM_011540899.1:c.100G>A, XR_946570.2:n.214G>A, XR_946570.1:n.506G>A, XM_017000548.2:c.100G>A, XM_017000548.1:c.100G>A, XR_007095698.1:n.214G>A, XM_047448402.1:c.-291G>A, XM_047448401.1:c.-291G>A, XM_047448400.1:c.100G>A, XM_047448403.1:c.100G>A, XR_007095697.1:n.214G>A, XM_047448410.1:c.100G>A, NP_001004303.3:p.Val34Ile, XP_005270641.1:p.Val34Ile, XP_011539202.1:p.Val34Ile, XP_011539205.1:p.Val34Ile, XP_011539207.1:p.Val34Ile, XP_011539200.1:p.Val34Ile, XP_011539201.1:p.Val34Ile, XP_016856037.1:p.Val34Ile, XP_047304356.1:p.Val34Ile, XP_047304359.1:p.Val34Ile, XP_047304366.1:p.Val34Ile

                        12.

                        rs1473499331 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:56753898 (GRCh38)
                          1:57219571 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:56753897:G:A
                          Gene:
                          FYB2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000047/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.56753898G>A, NC_000001.10:g.57219571G>A, NM_001004303.5:c.1168C>T, NM_001004303.4:c.1168C>T, XM_011540906.4:c.136C>T, XM_011540906.3:c.136C>T, XM_011540906.2:c.136C>T, XM_011540906.1:c.136C>T, XM_011540904.3:c.322C>T, XM_011540904.2:c.322C>T, XM_011540904.1:c.322C>T, XM_011540900.3:c.1246C>T, XM_011540900.2:c.1246C>T, XM_011540900.1:c.1246C>T, XR_946572.3:n.1360C>T, XR_946572.2:n.1652C>T, XR_946572.1:n.1652C>T, XM_011540903.3:c.1246C>T, XM_011540903.2:c.1246C>T, XM_011540903.1:c.1246C>T, XR_001737026.2:n.1360C>T, XR_001737026.1:n.1652C>T, XM_011540898.2:c.1246C>T, XM_011540898.1:c.1246C>T, XM_011540899.2:c.1246C>T, XM_011540899.1:c.1246C>T, XR_946570.2:n.1360C>T, XR_946570.1:n.1652C>T, XM_017000548.2:c.1246C>T, XM_017000548.1:c.1246C>T, XR_007095698.1:n.1360C>T, XM_047448402.1:c.856C>T, XM_047448401.1:c.856C>T, XM_047448400.1:c.1168C>T, XR_007095697.1:n.1360C>T, XM_047448410.1:c.1246C>T, NP_001004303.3:p.Pro390Ser, XP_011539208.1:p.Pro46Ser, XP_011539206.1:p.Pro108Ser, XP_011539202.1:p.Pro416Ser, XP_011539205.1:p.Pro416Ser, XP_011539200.1:p.Pro416Ser, XP_011539201.1:p.Pro416Ser, XP_016856037.1:p.Pro416Ser, XP_047304358.1:p.Pro286Ser, XP_047304357.1:p.Pro286Ser, XP_047304356.1:p.Pro390Ser, XP_047304366.1:p.Pro416Ser

                          13.

                          rs1472692664 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:56792268 (GRCh38)
                            1:57257941 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:56792267:G:C
                            Gene:
                            FYB2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.56792268G>C, NC_000001.10:g.57257941G>C, NM_001004303.5:c.545C>G, NM_001004303.4:c.545C>G, XM_005270584.4:c.545C>G, XM_005270584.3:c.545C>G, XM_005270584.2:c.545C>G, XM_005270584.1:c.545C>G, XM_011540900.3:c.545C>G, XM_011540900.2:c.545C>G, XM_011540900.1:c.545C>G, XR_946572.3:n.659C>G, XR_946572.2:n.951C>G, XR_946572.1:n.951C>G, XM_011540903.3:c.545C>G, XM_011540903.2:c.545C>G, XM_011540903.1:c.545C>G, XM_011540905.3:c.545C>G, XM_011540905.2:c.545C>G, XM_011540905.1:c.545C>G, XR_001737026.2:n.659C>G, XR_001737026.1:n.951C>G, XM_011540898.2:c.545C>G, XM_011540898.1:c.545C>G, XM_011540899.2:c.545C>G, XM_011540899.1:c.545C>G, XR_946570.2:n.659C>G, XR_946570.1:n.951C>G, XM_017000548.2:c.545C>G, XM_017000548.1:c.545C>G, XR_007095698.1:n.659C>G, XM_047448402.1:c.155C>G, XM_047448401.1:c.155C>G, XM_047448400.1:c.545C>G, XM_047448403.1:c.545C>G, XR_007095697.1:n.659C>G, XM_047448410.1:c.545C>G, NP_001004303.3:p.Pro182Arg, XP_005270641.1:p.Pro182Arg, XP_011539202.1:p.Pro182Arg, XP_011539205.1:p.Pro182Arg, XP_011539207.1:p.Pro182Arg, XP_011539200.1:p.Pro182Arg, XP_011539201.1:p.Pro182Arg, XP_016856037.1:p.Pro182Arg, XP_047304358.1:p.Pro52Arg, XP_047304357.1:p.Pro52Arg, XP_047304356.1:p.Pro182Arg, XP_047304359.1:p.Pro182Arg, XP_047304366.1:p.Pro182Arg

                            14.

                            rs1472266580 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:56731929 (GRCh38)
                              1:57197602 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:56731928:C:T
                              Gene:
                              FYB2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1472147050 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                1:56792170 (GRCh38)
                                1:57257843 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:56792169:A:C
                                Gene:
                                FYB2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000001.11:g.56792170A>C, NC_000001.10:g.57257843A>C, NM_001004303.5:c.643T>G, NM_001004303.4:c.643T>G, XM_005270584.4:c.643T>G, XM_005270584.3:c.643T>G, XM_005270584.2:c.643T>G, XM_005270584.1:c.643T>G, XM_011540900.3:c.643T>G, XM_011540900.2:c.643T>G, XM_011540900.1:c.643T>G, XR_946572.3:n.757T>G, XR_946572.2:n.1049T>G, XR_946572.1:n.1049T>G, XM_011540903.3:c.643T>G, XM_011540903.2:c.643T>G, XM_011540903.1:c.643T>G, XM_011540905.3:c.643T>G, XM_011540905.2:c.643T>G, XM_011540905.1:c.643T>G, XR_001737026.2:n.757T>G, XR_001737026.1:n.1049T>G, XM_011540898.2:c.643T>G, XM_011540898.1:c.643T>G, XM_011540899.2:c.643T>G, XM_011540899.1:c.643T>G, XR_946570.2:n.757T>G, XR_946570.1:n.1049T>G, XM_017000548.2:c.643T>G, XM_017000548.1:c.643T>G, XR_007095698.1:n.757T>G, XM_047448402.1:c.253T>G, XM_047448401.1:c.253T>G, XM_047448400.1:c.643T>G, XM_047448403.1:c.643T>G, XR_007095697.1:n.757T>G, XM_047448410.1:c.643T>G, NP_001004303.3:p.Phe215Val, XP_005270641.1:p.Phe215Val, XP_011539202.1:p.Phe215Val, XP_011539205.1:p.Phe215Val, XP_011539207.1:p.Phe215Val, XP_011539200.1:p.Phe215Val, XP_011539201.1:p.Phe215Val, XP_016856037.1:p.Phe215Val, XP_047304358.1:p.Phe85Val, XP_047304357.1:p.Phe85Val, XP_047304356.1:p.Phe215Val, XP_047304359.1:p.Phe215Val, XP_047304366.1:p.Phe215Val

                                16.

                                rs1470809984 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:56731896 (GRCh38)
                                  1:57197569 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:56731895:C:T
                                  Gene:
                                  FYB2 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1470366409 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    1:56731921 (GRCh38)
                                    1:57197594 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:56731920:G:T
                                    Gene:
                                    FYB2 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000023/6 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1466827884 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:56792117 (GRCh38)
                                      1:57257790 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:56792116:C:T
                                      Gene:
                                      FYB2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.56792117C>T, NC_000001.10:g.57257790C>T, NM_001004303.5:c.696G>A, NM_001004303.4:c.696G>A, XM_005270584.4:c.696G>A, XM_005270584.3:c.696G>A, XM_005270584.2:c.696G>A, XM_005270584.1:c.696G>A, XM_011540900.3:c.696G>A, XM_011540900.2:c.696G>A, XM_011540900.1:c.696G>A, XR_946572.3:n.810G>A, XR_946572.2:n.1102G>A, XR_946572.1:n.1102G>A, XM_011540903.3:c.696G>A, XM_011540903.2:c.696G>A, XM_011540903.1:c.696G>A, XM_011540905.3:c.696G>A, XM_011540905.2:c.696G>A, XM_011540905.1:c.696G>A, XR_001737026.2:n.810G>A, XR_001737026.1:n.1102G>A, XM_011540898.2:c.696G>A, XM_011540898.1:c.696G>A, XM_011540899.2:c.696G>A, XM_011540899.1:c.696G>A, XR_946570.2:n.810G>A, XR_946570.1:n.1102G>A, XM_017000548.2:c.696G>A, XM_017000548.1:c.696G>A, XR_007095698.1:n.810G>A, XM_047448402.1:c.306G>A, XM_047448401.1:c.306G>A, XM_047448400.1:c.696G>A, XM_047448403.1:c.696G>A, XR_007095697.1:n.810G>A, XM_047448410.1:c.696G>A

                                      19.

                                      rs1465817062 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:56751081 (GRCh38)
                                        1:57216754 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:56751080:A:T
                                        Gene:
                                        FYB2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000028/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.56751081A>T, NC_000001.10:g.57216754A>T, NM_001004303.5:c.1350T>A, NM_001004303.4:c.1350T>A, XM_011540906.4:c.318T>A, XM_011540906.3:c.318T>A, XM_011540906.2:c.318T>A, XM_011540906.1:c.318T>A, XM_011540904.3:c.504T>A, XM_011540904.2:c.504T>A, XM_011540904.1:c.504T>A, XM_011540900.3:c.1428T>A, XM_011540900.2:c.1428T>A, XM_011540900.1:c.1428T>A, XR_946572.3:n.1542T>A, XR_946572.2:n.1834T>A, XR_946572.1:n.1834T>A, XM_011540903.3:c.1428T>A, XM_011540903.2:c.1428T>A, XM_011540903.1:c.1428T>A, XR_001737026.2:n.1542T>A, XR_001737026.1:n.1834T>A, XM_011540898.2:c.1428T>A, XM_011540898.1:c.1428T>A, XM_011540899.2:c.1428T>A, XM_011540899.1:c.1428T>A, XR_946570.2:n.1542T>A, XR_946570.1:n.1834T>A, XM_017000548.2:c.1428T>A, XM_017000548.1:c.1428T>A, XR_007095698.1:n.1542T>A, XM_047448402.1:c.1038T>A, XM_047448401.1:c.1038T>A, XM_047448400.1:c.1350T>A, XR_007095697.1:n.1542T>A, XM_047448410.1:c.1428T>A

                                        20.

                                        rs1464948767 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:56792799 (GRCh38)
                                          1:57258472 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:56792798:C:T
                                          Gene:
                                          FYB2 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          HGVS:
                                          NC_000001.11:g.56792799C>T, NC_000001.10:g.57258472C>T, NM_001004303.5:c.14G>A, NM_001004303.4:c.14G>A, XM_005270584.4:c.14G>A, XM_005270584.3:c.14G>A, XM_005270584.2:c.14G>A, XM_005270584.1:c.14G>A, XM_011540900.3:c.14G>A, XM_011540900.2:c.14G>A, XM_011540900.1:c.14G>A, XR_946572.3:n.128G>A, XR_946572.2:n.420G>A, XR_946572.1:n.420G>A, XM_011540903.3:c.14G>A, XM_011540903.2:c.14G>A, XM_011540903.1:c.14G>A, XM_011540905.3:c.14G>A, XM_011540905.2:c.14G>A, XM_011540905.1:c.14G>A, XR_001737026.2:n.128G>A, XR_001737026.1:n.420G>A, XM_011540898.2:c.14G>A, XM_011540898.1:c.14G>A, XM_011540899.2:c.14G>A, XM_011540899.1:c.14G>A, XR_946570.2:n.128G>A, XR_946570.1:n.420G>A, XM_017000548.2:c.14G>A, XM_017000548.1:c.14G>A, XR_007095698.1:n.128G>A, XM_047448402.1:c.-377G>A, XM_047448401.1:c.-377G>A, XM_047448400.1:c.14G>A, XM_047448403.1:c.14G>A, XR_007095697.1:n.128G>A, XM_047448410.1:c.14G>A, NP_001004303.3:p.Gly5Glu, XP_005270641.1:p.Gly5Glu, XP_011539202.1:p.Gly5Glu, XP_011539205.1:p.Gly5Glu, XP_011539207.1:p.Gly5Glu, XP_011539200.1:p.Gly5Glu, XP_011539201.1:p.Gly5Glu, XP_016856037.1:p.Gly5Glu, XP_047304356.1:p.Gly5Glu, XP_047304359.1:p.Gly5Glu, XP_047304366.1:p.Gly5Glu

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