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Items: 1 to 20 of 1942

1.

rs1491588524 has merged into rs1170709894 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:42771962 (GRCh38)
    17:40923980 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42771953:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    VPS25 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.42771962_42771978del, NC_000017.11:g.42771964_42771978del, NC_000017.11:g.42771966_42771978del, NC_000017.11:g.42771967_42771978del, NC_000017.11:g.42771968_42771978del, NC_000017.11:g.42771969_42771978del, NC_000017.11:g.42771970_42771978del, NC_000017.11:g.42771971_42771978del, NC_000017.11:g.42771972_42771978del, NC_000017.11:g.42771973_42771978del, NC_000017.11:g.42771974_42771978del, NC_000017.11:g.42771975_42771978del, NC_000017.11:g.42771976_42771978del, NC_000017.11:g.42771977_42771978del, NC_000017.11:g.42771978del, NC_000017.11:g.42771978dup, NC_000017.11:g.42771977_42771978dup, NC_000017.11:g.42771976_42771978dup, NC_000017.11:g.42771975_42771978dup, NC_000017.11:g.42771974_42771978dup, NC_000017.11:g.42771973_42771978dup, NC_000017.11:g.42771971_42771978dup, NC_000017.11:g.42771970_42771978dup, NC_000017.11:g.42771958_42771978dup, NC_000017.11:g.42771978_42771979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.40923980_40923996del, NC_000017.10:g.40923982_40923996del, NC_000017.10:g.40923984_40923996del, NC_000017.10:g.40923985_40923996del, NC_000017.10:g.40923986_40923996del, NC_000017.10:g.40923987_40923996del, NC_000017.10:g.40923988_40923996del, NC_000017.10:g.40923989_40923996del, NC_000017.10:g.40923990_40923996del, NC_000017.10:g.40923991_40923996del, NC_000017.10:g.40923992_40923996del, NC_000017.10:g.40923993_40923996del, NC_000017.10:g.40923994_40923996del, NC_000017.10:g.40923995_40923996del, NC_000017.10:g.40923996del, NC_000017.10:g.40923996dup, NC_000017.10:g.40923995_40923996dup, NC_000017.10:g.40923994_40923996dup, NC_000017.10:g.40923993_40923996dup, NC_000017.10:g.40923992_40923996dup, NC_000017.10:g.40923991_40923996dup, NC_000017.10:g.40923989_40923996dup, NC_000017.10:g.40923988_40923996dup, NC_000017.10:g.40923976_40923996dup, NC_000017.10:g.40923996_40923997insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    ...more
    2.

    rs1491091940 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:42771953 (GRCh38)
      17:40923971 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42771952:CA:
      Gene:
      VPS25 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00008/1 (ALFA)
      -=0.00037/21 (GnomAD)
      -=0.00209/33 (TOMMO)
      -=0.03633/63 (Korea1K)
      ...more
      HGVS:
      3.

      rs1490902259 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:42773357 (GRCh38)
        17:40925375 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42773356:G:A
        Gene:
        VPS25 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        ...more
        HGVS:
        4.

        rs1490468819 has merged into rs1161401913 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          17:42774381 (GRCh38)
          17:40926399 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42774372:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          VPS25 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTT=0./0 (ALFA)
          HGVS:
          5.

          rs1489014468 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:42780030 (GRCh38)
            17:40932048 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42780029:G:A
            Gene:
            WNK4 (Varview), VPS25 (Varview)
            Functional Consequence:
            downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            A=0.000531/9 (TOMMO)
            A=0.000546/1 (Korea1K)
            ...more
            HGVS:
            6.

            rs1488777943 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:42775468 (GRCh38)
              17:40927486 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42775467:G:A
              Gene:
              VPS25 (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1488615601 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                17:42779660 (GRCh38)
                17:40931678 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42779659:G:T
                Gene:
                WNK4 (Varview), VPS25 (Varview)
                Functional Consequence:
                downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1487696929 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  17:42779031 (GRCh38)
                  17:40931049 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42779030:A:T
                  Gene:
                  WNK4 (Varview), VPS25 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                  Validated:
                  by cluster
                  HGVS:
                  9.

                  rs1487124065 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:42774026 (GRCh38)
                    17:40926044 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42774025:T:C
                    Gene:
                    VPS25 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000011/3 (TOPMED)
                    ...more
                    HGVS:
                    10.

                    rs1486046867 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:42772924 (GRCh38)
                      17:40924942 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42772923:G:A
                      Gene:
                      VPS25 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000019/5 (TOPMED)
                      A=0.000043/6 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1485698350 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:42774037 (GRCh38)
                        17:40926055 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42774036:C:T
                        Gene:
                        VPS25 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000224/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000223/1 (Estonian)
                        ...more
                        HGVS:
                        12.

                        rs1485336995 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:42772555 (GRCh38)
                          17:40924573 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42772554:T:C
                          Gene:
                          VPS25 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,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)
                          ...more
                          HGVS:
                          13.

                          rs1484983547 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:42771622 (GRCh38)
                            17:40923640 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42771621:G:A
                            Gene:
                            VPS25 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            ...more
                            HGVS:
                            14.

                            rs1484032622 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:42777439 (GRCh38)
                              17:40929457 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42777438:C:T
                              Gene:
                              VPS25 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000015/4 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              ...more
                              HGVS:
                              15.

                              rs1484021703 has merged into rs1205721262 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                17:42776678 (GRCh38)
                                17:40928696 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42776663:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                VPS25 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1483878537 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:42775429 (GRCh38)
                                  17:40927447 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42775428:G:A
                                  Gene:
                                  VPS25 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1483853886 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACAAA>- [Show Flanks]
                                    Chromosome:
                                    17:42773059 (GRCh38)
                                    17:40925077 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42773055:AAAACAAA:AAA
                                    Gene:
                                    VPS25 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AAA=0./0 (ALFA)
                                    -=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483714053 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      17:42776593 (GRCh38)
                                      17:40928611 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42776592:A:C,NC_000017.11:42776592:A:G
                                      Gene:
                                      VPS25 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      C=0.002183/4 (Korea1K)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1483706207 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:42776381 (GRCh38)
                                        17:40928399 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:42776380:G:A
                                        Gene:
                                        VPS25 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1483697092 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:42777148 (GRCh38)
                                          17:40929166 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:42777147:G:A
                                          Gene:
                                          VPS25 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          ...more
                                          HGVS:

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