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Items: 1 to 20 of 4763

1.

rs1491219261 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA [Show Flanks]
    Chromosome:
    19:9303029 (GRCh38)
    19:9413705 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9303028:AAAAAAA:AAAAAA,NC_000019.10:9303028:AAAAAAA:AAAAAAAA
    Gene:
    ZNF699 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.000022/3 (GnomAD)
    HGVS:
    2.

    rs1491200366 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      19:9292224 (GRCh38)
      19:9402900 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9292222:TAT:T
      Gene:
      ZNF699 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000427/6 (ALFA)
      -=0.00054/143 (TOPMED)
      -=0.000713/100 (GnomAD)
      TA=0.3/3 (1000Genomes)
      ...more
      HGVS:
      3.

      rs1490995890 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        19:9310738 (GRCh38)
        19:9421414 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9310737:C:G
        Gene:
        ZNF699 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490842976 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:9308824 (GRCh38)
          19:9419500 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9308823:G:A
          Gene:
          ZNF699 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490824796 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            19:9296592 (GRCh38)
            19:9407268 (GRCh37)
            Canonical SPDI:
            NC_000019.10:9296591:T:G
            Gene:
            ZNF699 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000011/3 (TOPMED)
            ...more
            HGVS:
            6.

            rs1490739427 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:9305120 (GRCh38)
              19:9415796 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9305119:G:A
              Gene:
              ZNF699 (Varview)
              Functional Consequence:
              5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              ...more
              HGVS:
              7.

              rs1490686924 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                19:9298057 (GRCh38)
                19:9408733 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9298055:AGA:A
                Gene:
                ZNF699 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                ...more
                HGVS:
                8.

                rs1490631317 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  19:9291678 (GRCh38)
                  19:9402354 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:9291677:T:C,NC_000019.10:9291677:T:G
                  Gene:
                  ZNF699 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490443669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:9304943 (GRCh38)
                    19:9415619 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9304942:A:G
                    Gene:
                    ZNF699 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490333984 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:9295982 (GRCh38)
                      19:9406658 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9295981:C:T
                      Gene:
                      ZNF699 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1490124509 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:9304242 (GRCh38)
                        19:9414918 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9304241:T:C
                        Gene:
                        ZNF699 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000035/1 (TOMMO)
                        ...more
                        HGVS:
                        12.

                        rs1489602020 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:9306293 (GRCh38)
                          19:9416969 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9306292:G:A
                          Gene:
                          ZNF699 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1489570889 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            C>T
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1489430318 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:9300302 (GRCh38)
                              19:9410978 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9300301:G:A
                              Gene:
                              ZNF699 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489397534 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AT>- [Show Flanks]
                                Chromosome:
                                19:9298135 (GRCh38)
                                19:9408811 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9298133:TAT:T
                                Gene:
                                ZNF699 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000017/2 (GnomAD)
                                ...more
                                HGVS:
                                16.

                                rs1489383476 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:9296242 (GRCh38)
                                  19:9406918 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9296241:C:T
                                  Gene:
                                  ZNF699 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000019/5 (TOPMED)
                                  T=0.000043/6 (GnomAD)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1489287242 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AATTTT>- [Show Flanks]
                                    Chromosome:
                                    19:9299444 (GRCh38)
                                    19:9410120 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9299439:TTTTAATTTT:TTTT
                                    Gene:
                                    ZNF699 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTTT=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489203967 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:9306568 (GRCh38)
                                      19:9417244 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9306567:A:G
                                      Gene:
                                      ZNF699 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1489187390 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AC>- [Show Flanks]
                                        Chromosome:
                                        19:9291262 (GRCh38)
                                        19:9401938 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9291261:AC:
                                        Gene:
                                        ZNF699 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1488917939 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:9302563 (GRCh38)
                                          19:9413239 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:9302562:G:A
                                          Gene:
                                          ZNF699 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          ...more
                                          HGVS:

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