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Links from Gene

Items: 1 to 20 of 3563

1.

rs1491532200 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CGGGG,TGGGG [Show Flanks]
    Chromosome:
    18:26862997 (GRCh38)
    18:24442962 (GRCh37)
    Canonical SPDI:
    NC_000018.10:26862997:GGGG:GGGGCGGGG,NC_000018.10:26862997:GGGG:GGGGTGGGG
    Gene:
    AQP4 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GGGGTGGGG=0./0 (ALFA)
    GGGGC=0.00067/1 (Korea1K)
    HGVS:
    2.

    rs1491261203 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TG [Show Flanks]
      Chromosome:
      18:26863994 (GRCh38)
      18:24443959 (GRCh37)
      Canonical SPDI:
      NC_000018.10:26863994::TG
      Gene:
      AQP4 (Varview), AQP4-AS1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      TG=0./0 (ALFA)
      TG=0.000022/3 (GnomAD)
      HGVS:
      3.

      rs1491131125 has merged into rs745810573 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
        Chromosome:
        18:26863005 (GRCh38)
        18:24442969 (GRCh37)
        Canonical SPDI:
        NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
        Gene:
        AQP4 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGGG=0./0 (ALFA)
        HGVS:
        NC_000018.10:g.26863005_26863008del, NC_000018.10:g.26863006_26863008del, NC_000018.10:g.26863007_26863008del, NC_000018.10:g.26863008del, NC_000018.10:g.26863008dup, NC_000018.10:g.26863007_26863008dup, NC_000018.10:g.26863006_26863008dup, NC_000018.10:g.26863005_26863008dup, NC_000018.10:g.26863004_26863008dup, NC_000018.10:g.26863003_26863008dup, NC_000018.9:g.24442969_24442972del, NC_000018.9:g.24442970_24442972del, NC_000018.9:g.24442971_24442972del, NC_000018.9:g.24442972del, NC_000018.9:g.24442972dup, NC_000018.9:g.24442971_24442972dup, NC_000018.9:g.24442970_24442972dup, NC_000018.9:g.24442969_24442972dup, NC_000018.9:g.24442968_24442972dup, NC_000018.9:g.24442967_24442972dup, NG_029560.1:g.7753_7756del, NG_029560.1:g.7754_7756del, NG_029560.1:g.7755_7756del, NG_029560.1:g.7756del, NG_029560.1:g.7756dup, NG_029560.1:g.7755_7756dup, NG_029560.1:g.7754_7756dup, NG_029560.1:g.7753_7756dup, NG_029560.1:g.7752_7756dup, NG_029560.1:g.7751_7756dup, XM_011525942.4:c.-28_-25del, XM_011525942.4:c.-27_-25del, XM_011525942.4:c.-26_-25del, XM_011525942.4:c.-25del, XM_011525942.4:c.-25dup, XM_011525942.4:c.-26_-25dup, XM_011525942.4:c.-27_-25dup, XM_011525942.4:c.-28_-25dup, XM_011525942.4:c.-29_-25dup, XM_011525942.4:c.-30_-25dup, XM_011525942.3:c.-28_-25del, XM_011525942.3:c.-27_-25del, XM_011525942.3:c.-26_-25del, XM_011525942.3:c.-25del, XM_011525942.3:c.-25dup, XM_011525942.3:c.-26_-25dup, XM_011525942.3:c.-27_-25dup, XM_011525942.3:c.-28_-25dup, XM_011525942.3:c.-29_-25dup, XM_011525942.3:c.-30_-25dup, XM_011525942.2:c.-28_-25del, XM_011525942.2:c.-27_-25del, XM_011525942.2:c.-26_-25del, XM_011525942.2:c.-25del, XM_011525942.2:c.-25dup, XM_011525942.2:c.-26_-25dup, XM_011525942.2:c.-27_-25dup, XM_011525942.2:c.-28_-25dup, XM_011525942.2:c.-29_-25dup, XM_011525942.2:c.-30_-25dup, XM_011525942.1:c.-28_-25del, XM_011525942.1:c.-27_-25del, XM_011525942.1:c.-26_-25del, XM_011525942.1:c.-25del, XM_011525942.1:c.-25dup, XM_011525942.1:c.-26_-25dup, XM_011525942.1:c.-27_-25dup, XM_011525942.1:c.-28_-25dup, XM_011525942.1:c.-29_-25dup, XM_011525942.1:c.-30_-25dup
        4.

        rs1490979506 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          18:26857633 (GRCh38)
          18:24437597 (GRCh37)
          Canonical SPDI:
          NC_000018.10:26857632:A:G
          Gene:
          AQP4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490749933 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:26851957 (GRCh38)
            18:24431921 (GRCh37)
            Canonical SPDI:
            NC_000018.10:26851956:C:T
            Gene:
            AQP4 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000019/5 (TOPMED)
            HGVS:
            7.

            rs1490568047 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              18:26861884 (GRCh38)
              18:24441848 (GRCh37)
              Canonical SPDI:
              NC_000018.10:26861883:T:C
              Gene:
              AQP4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              9.

              rs1490354153 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                18:26858839 (GRCh38)
                18:24438803 (GRCh37)
                Canonical SPDI:
                NC_000018.10:26858838:T:A
                Gene:
                AQP4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                11.

                rs1489620015 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  18:26864562 (GRCh38)
                  18:24444526 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:26864561:G:C
                  Gene:
                  AQP4 (Varview), AQP4-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000036/5 (GnomAD)
                  C=0.000045/12 (TOPMED)
                  HGVS:
                  12.

                  rs1489534118 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    18:26858955 (GRCh38)
                    18:24438919 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:26858954:T:C
                    Gene:
                    AQP4 (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)
                    HGVS:
                    13.

                    rs1489419255 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      18:26863582 (GRCh38)
                      18:24443546 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:26863581:A:G
                      Gene:
                      AQP4 (Varview), AQP4-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      18.

                      rs1488105798 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        18:26863568 (GRCh38)
                        18:24443532 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:26863567:T:C
                        Gene:
                        AQP4 (Varview), AQP4-AS1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        19.

                        rs1488087965 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          18:26859096 (GRCh38)
                          18:24439060 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:26859095:C:A
                          Gene:
                          AQP4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          20.

                          rs1487835398 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            18:26863308 (GRCh38)
                            18:24443272 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:26863307:C:T
                            Gene:
                            AQP4 (Varview), AQP4-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:

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