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Items: 1 to 20 of 14128

1.

rs1491543136 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    19:21187457 (GRCh38)
    19:21370260 (GRCh37)
    Canonical SPDI:
    NC_000019.10:21187454:AGAG:AG
    Gene:
    ZNF431 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAG=0./0 (ALFA)
    -=0.01278/207 (TOMMO)
    -=0.14853/2747 (GnomAD)
    HGVS:
    2.

    rs1491353762 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      19:21147605 (GRCh38)
      19:21330408 (GRCh37)
      Canonical SPDI:
      NC_000019.10:21147604:GA:
      Gene:
      ZNF431 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491312184 has merged into rs550012306 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        19:21171727 (GRCh38)
        19:21354530 (GRCh37)
        Canonical SPDI:
        NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ZNF431 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000019.10:g.21171727_21171739del, NC_000019.10:g.21171728_21171739del, NC_000019.10:g.21171732_21171739del, NC_000019.10:g.21171733_21171739del, NC_000019.10:g.21171734_21171739del, NC_000019.10:g.21171735_21171739del, NC_000019.10:g.21171736_21171739del, NC_000019.10:g.21171737_21171739del, NC_000019.10:g.21171738_21171739del, NC_000019.10:g.21171739del, NC_000019.10:g.21171739dup, NC_000019.10:g.21171738_21171739dup, NC_000019.10:g.21171737_21171739dup, NC_000019.10:g.21171736_21171739dup, NC_000019.10:g.21171734_21171739dup, NC_000019.10:g.21171733_21171739dup, NC_000019.10:g.21171732_21171739dup, NC_000019.9:g.21354530_21354542del, NC_000019.9:g.21354531_21354542del, NC_000019.9:g.21354535_21354542del, NC_000019.9:g.21354536_21354542del, NC_000019.9:g.21354537_21354542del, NC_000019.9:g.21354538_21354542del, NC_000019.9:g.21354539_21354542del, NC_000019.9:g.21354540_21354542del, NC_000019.9:g.21354541_21354542del, NC_000019.9:g.21354542del, NC_000019.9:g.21354542dup, NC_000019.9:g.21354541_21354542dup, NC_000019.9:g.21354540_21354542dup, NC_000019.9:g.21354539_21354542dup, NC_000019.9:g.21354537_21354542dup, NC_000019.9:g.21354536_21354542dup, NC_000019.9:g.21354535_21354542dup, NG_051229.1:g.34719_34731del, NG_051229.1:g.34720_34731del, NG_051229.1:g.34724_34731del, NG_051229.1:g.34725_34731del, NG_051229.1:g.34726_34731del, NG_051229.1:g.34727_34731del, NG_051229.1:g.34728_34731del, NG_051229.1:g.34729_34731del, NG_051229.1:g.34730_34731del, NG_051229.1:g.34731del, NG_051229.1:g.34731dup, NG_051229.1:g.34730_34731dup, NG_051229.1:g.34729_34731dup, NG_051229.1:g.34728_34731dup, NG_051229.1:g.34726_34731dup, NG_051229.1:g.34725_34731dup, NG_051229.1:g.34724_34731dup
        4.

        rs1491042591 has merged into rs112684254 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          19:21157859 (GRCh38)
          19:21340662 (GRCh37)
          Canonical SPDI:
          NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          ZNF431 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1491029955 has merged into rs34934773 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
            Chromosome:
            19:21164092 (GRCh38)
            19:21346895 (GRCh37)
            Canonical SPDI:
            NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
            Gene:
            ZNF431 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAA=0./0 (ALFA)
            A=0.3375/1690 (1000Genomes)
            HGVS:
            NC_000019.10:g.21164092_21164095del, NC_000019.10:g.21164093_21164095del, NC_000019.10:g.21164094_21164095del, NC_000019.10:g.21164095del, NC_000019.10:g.21164095dup, NC_000019.10:g.21164094_21164095dup, NC_000019.10:g.21164093_21164095dup, NC_000019.10:g.21164092_21164095dup, NC_000019.10:g.21164091_21164095dup, NC_000019.9:g.21346895_21346898del, NC_000019.9:g.21346896_21346898del, NC_000019.9:g.21346897_21346898del, NC_000019.9:g.21346898del, NC_000019.9:g.21346898dup, NC_000019.9:g.21346897_21346898dup, NC_000019.9:g.21346896_21346898dup, NC_000019.9:g.21346895_21346898dup, NC_000019.9:g.21346894_21346898dup, NG_051229.1:g.27084_27087del, NG_051229.1:g.27085_27087del, NG_051229.1:g.27086_27087del, NG_051229.1:g.27087del, NG_051229.1:g.27087dup, NG_051229.1:g.27086_27087dup, NG_051229.1:g.27085_27087dup, NG_051229.1:g.27084_27087dup, NG_051229.1:g.27083_27087dup
            6.

            rs1491016303 has merged into rs749424799 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
              Chromosome:
              19:21162156 (GRCh38)
              19:21344959 (GRCh37)
              Canonical SPDI:
              NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
              Gene:
              ZNF431 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.078879/304 (ALSPAC)
              HGVS:
              NC_000019.10:g.21162146GT[5], NC_000019.10:g.21162146GT[11], NC_000019.10:g.21162146GT[12], NC_000019.10:g.21162146GT[13], NC_000019.10:g.21162146GT[14], NC_000019.10:g.21162146GT[15], NC_000019.10:g.21162146GT[16], NC_000019.10:g.21162146GT[17], NC_000019.10:g.21162146GT[18], NC_000019.10:g.21162146GT[19], NC_000019.10:g.21162146GT[21], NC_000019.10:g.21162146GT[22], NC_000019.10:g.21162146GT[23], NC_000019.10:g.21162146GT[24], NC_000019.10:g.21162146GT[25], NC_000019.10:g.21162146GT[26], NC_000019.10:g.21162146GT[28], NC_000019.9:g.21344949GT[5], NC_000019.9:g.21344949GT[11], NC_000019.9:g.21344949GT[12], NC_000019.9:g.21344949GT[13], NC_000019.9:g.21344949GT[14], NC_000019.9:g.21344949GT[15], NC_000019.9:g.21344949GT[16], NC_000019.9:g.21344949GT[17], NC_000019.9:g.21344949GT[18], NC_000019.9:g.21344949GT[19], NC_000019.9:g.21344949GT[21], NC_000019.9:g.21344949GT[22], NC_000019.9:g.21344949GT[23], NC_000019.9:g.21344949GT[24], NC_000019.9:g.21344949GT[25], NC_000019.9:g.21344949GT[26], NC_000019.9:g.21344949GT[28], NG_051229.1:g.25138GT[5], NG_051229.1:g.25138GT[11], NG_051229.1:g.25138GT[12], NG_051229.1:g.25138GT[13], NG_051229.1:g.25138GT[14], NG_051229.1:g.25138GT[15], NG_051229.1:g.25138GT[16], NG_051229.1:g.25138GT[17], NG_051229.1:g.25138GT[18], NG_051229.1:g.25138GT[19], NG_051229.1:g.25138GT[21], NG_051229.1:g.25138GT[22], NG_051229.1:g.25138GT[23], NG_051229.1:g.25138GT[24], NG_051229.1:g.25138GT[25], NG_051229.1:g.25138GT[26], NG_051229.1:g.25138GT[28]
              7.

              rs1490929020 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:21180043 (GRCh38)
                19:21362846 (GRCh37)
                Canonical SPDI:
                NC_000019.10:21180042:A:G
                Gene:
                ZNF431 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1490758566 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  19:21173228 (GRCh38)
                  19:21356031 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:21173227:G:C
                  Gene:
                  ZNF431 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490734598 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CCT>- [Show Flanks]
                    Chromosome:
                    19:21178016 (GRCh38)
                    19:21360819 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:21178013:CTCCT:CT
                    Gene:
                    ZNF431 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CT=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490659706 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:21161201 (GRCh38)
                      19:21344004 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:21161200:A:G
                      Gene:
                      ZNF431 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490644656 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:21163318 (GRCh38)
                        19:21346121 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:21163317:A:G
                        Gene:
                        ZNF431 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490543405 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          19:21143026 (GRCh38)
                          19:21325830 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:21143026:AA:AAA
                          Gene:
                          ZNF431 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAA=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490516251 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            19:21157241 (GRCh38)
                            19:21340044 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:21157240:A:T
                            Gene:
                            ZNF431 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.00006/1 (ALFA)
                            T=0.00018/5 (TOMMO)
                            T=0.00022/1 (Estonian)
                            HGVS:
                            14.

                            rs1490497321 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:21180455 (GRCh38)
                              19:21363258 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:21180454:G:A
                              Gene:
                              ZNF431 (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)
                              HGVS:
                              15.

                              rs1490392235 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:21194142 (GRCh38)
                                19:21376945 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:21194141:A:G
                                Gene:
                                ZNF431 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1490358888 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  19:21179432 (GRCh38)
                                  19:21362235 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:21179431:T:A
                                  Gene:
                                  ZNF431 (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)
                                  HGVS:
                                  17.

                                  rs1490348921 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    19:21159077 (GRCh38)
                                    19:21341880 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:21159076:G:A,NC_000019.10:21159076:G:T
                                    Gene:
                                    ZNF431 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490311731 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      19:21165519 (GRCh38)
                                      19:21348322 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:21165518:G:
                                      Gene:
                                      ZNF431 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490207939 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        19:21143982 (GRCh38)
                                        19:21326785 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:21143981:C:G
                                        Gene:
                                        ZNF431 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490143282 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:21150376 (GRCh38)
                                          19:21333179 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:21150375:C:T
                                          Gene:
                                          ZNF431 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000162/3 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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