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Items: 1 to 20 of 33

1.

rs1478984748 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,T [Show Flanks]
    Chromosome:
    X:155458981 (GRCh38)
    X:154688642 (GRCh37)
    Canonical SPDI:
    NC_000023.11:155458980:A:C,NC_000023.11:155458980:A:T
    Gene:
    H2AB3 (Varview), F8A3 (Varview)
    Functional Consequence:
    2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.00078/8 (ALFA)
    C=0.04525/20 (KOREAN)
    HGVS:
    2.

    rs1469331058 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      X:155459033 (GRCh38)
      X:154688694 (GRCh37)
      Canonical SPDI:
      NC_000023.11:155459032:C:A
      Gene:
      H2AB3 (Varview), F8A3 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.02143/292 (ALFA)
      HGVS:
      3.

      rs1439851534 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        X:155458995 (GRCh38)
        X:154688656 (GRCh37)
        Canonical SPDI:
        NC_000023.11:155458994:G:
        Gene:
        H2AB3 (Varview), F8A3 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1436478481 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          X:155459001 (GRCh38)
          X:154688662 (GRCh37)
          Canonical SPDI:
          NC_000023.11:155459000:C:A,NC_000023.11:155459000:C:G
          Gene:
          H2AB3 (Varview), F8A3 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          C=0./0 (SGDP_PRJ)
          HGVS:
          5.

          rs1419838928 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            X:155459012 (GRCh38)
            X:154688673 (GRCh37)
            Canonical SPDI:
            NC_000023.11:155459011:C:G
            Gene:
            H2AB3 (Varview), F8A3 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.00015/2 (ALFA)
            G=0.00042/2 (1000Genomes)
            HGVS:
            6.

            rs1418680978 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              X:155458960 (GRCh38)
              X:154688621 (GRCh37)
              Canonical SPDI:
              NC_000023.11:155458959:A:C
              Gene:
              H2AB3 (Varview), F8A3 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.07452/884 (ALFA)
              C=0.02062/8 (KOREAN)
              HGVS:
              7.

              rs1408060347 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                X:155458949 (GRCh38)
                X:154688610 (GRCh37)
                Canonical SPDI:
                NC_000023.11:155458948:G:C
                Gene:
                H2AB3 (Varview), F8A3 (Varview)
                Functional Consequence:
                500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.01568/186 (ALFA)
                G=0./0 (SGDP_PRJ)
                C=0.00231/2 (TOMMO)
                HGVS:
                8.

                rs1401309768 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:155458763 (GRCh38)
                  X:154688424 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:155458762:G:A
                  Gene:
                  F8A3 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1381755131 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    X:155459017 (GRCh38)
                    X:154688678 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:155459016:C:A
                    Gene:
                    H2AB3 (Varview), F8A3 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1377916211 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      X:155459005 (GRCh38)
                      X:154688666 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:155459004:C:G,NC_000023.11:155459004:C:T
                      Gene:
                      H2AB3 (Varview), F8A3 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1373557388 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        X:155459009 (GRCh38)
                        X:154688670 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:155459008:C:G
                        Gene:
                        H2AB3 (Varview), F8A3 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1353663082 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          X:155459007 (GRCh38)
                          X:154688668 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:155459006:C:A,NC_000023.11:155459006:C:G
                          Gene:
                          H2AB3 (Varview), F8A3 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.00034/4 (ALFA)
                          HGVS:
                          13.

                          rs1350704389 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            X:155459003 (GRCh38)
                            X:154688664 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:155459002:C:G
                            Gene:
                            H2AB3 (Varview), F8A3 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.00438/52 (ALFA)
                            C=0./0 (SGDP_PRJ)
                            G=0.00046/1 (TOMMO)
                            HGVS:
                            14.

                            rs1334590295 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              X:155459008 (GRCh38)
                              X:154688669 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:155459007:C:A,NC_000023.11:155459007:C:G
                              Gene:
                              H2AB3 (Varview), F8A3 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.00083/4 (1000Genomes)
                              HGVS:
                              15.

                              rs1333114142 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:155458865 (GRCh38)
                                X:154688526 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:155458864:C:T
                                Gene:
                                F8A3 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.00017/2 (ALFA)
                                T=0.00538/1 (GnomAD)
                                HGVS:
                                16.

                                rs1332869063 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:155458612 (GRCh38)
                                  X:154688273 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:155458611:C:T
                                  Gene:
                                  F8A3 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1323999687 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    X:155458644 (GRCh38)
                                    X:154688305 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:155458643:G:C
                                    Gene:
                                    F8A3 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.00008/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1301257899 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      X:155459004 (GRCh38)
                                      X:154688665 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:155459003:C:A,NC_000023.11:155459003:C:G,NC_000023.11:155459003:C:T
                                      Gene:
                                      H2AB3 (Varview), F8A3 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1281543188 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        X:155459006 (GRCh38)
                                        X:154688667 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:155459005:C:A,NC_000023.11:155459005:C:G,NC_000023.11:155459005:C:T
                                        Gene:
                                        H2AB3 (Varview), F8A3 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1272785202 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          X:155459002 (GRCh38)
                                          X:154688663 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:155459001:C:A,NC_000023.11:155459001:C:G
                                          Gene:
                                          H2AB3 (Varview), F8A3 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          A=0.00104/5 (1000Genomes)
                                          HGVS:

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