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Links from Protein

Items: 1 to 20 of 483

1.

rs1484156025 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:52314200 (GRCh38)
    19:52817453 (GRCh37)
    Canonical SPDI:
    NC_000019.10:52314199:G:A
    Gene:
    ZNF480 (Varview)
    Functional Consequence:
    synonymous_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1481909906 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:52314276 (GRCh38)
      19:52817529 (GRCh37)
      Canonical SPDI:
      NC_000019.10:52314275:C:T
      Gene:
      ZNF480 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1481135598 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:52322604 (GRCh38)
        19:52825857 (GRCh37)
        Canonical SPDI:
        NC_000019.10:52322603:G:C
        Gene:
        ZNF480 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1480331674 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:52322195 (GRCh38)
          19:52825448 (GRCh37)
          Canonical SPDI:
          NC_000019.10:52322194:C:T
          Gene:
          ZNF480 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1474855993 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:52321604 (GRCh38)
            19:52824857 (GRCh37)
            Canonical SPDI:
            NC_000019.10:52321603:T:C
            Gene:
            ZNF480 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.
            7.
            8.

            rs1471453643 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              19:52322689 (GRCh38)
              19:52825942 (GRCh37)
              Canonical SPDI:
              NC_000019.10:52322688:AAA:AA
              Gene:
              ZNF480 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AA=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              -=0.00008/1 (GoESP)
              HGVS:
              9.

              rs1469284281 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                19:52322152 (GRCh38)
                19:52825405 (GRCh37)
                Canonical SPDI:
                NC_000019.10:52322151:A:C
                Gene:
                ZNF480 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                10.
                12.

                rs1466531677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:52314156 (GRCh38)
                  19:52817409 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:52314155:C:T
                  Gene:
                  ZNF480 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  13.

                  rs1463273883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:52322293 (GRCh38)
                    19:52825546 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:52322292:G:A
                    Gene:
                    ZNF480 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000066/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    14.

                    rs1463048412 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GA [Show Flanks]
                      Chromosome:
                      19:52322433 (GRCh38)
                      19:52825687 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:52322433:GAGAGA:GAGAGAGA
                      Gene:
                      ZNF480 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GAGAGAGA=0./0 (ALFA)
                      GA=0.000004/1 (GnomAD_exomes)
                      GA=0.000004/1 (TOPMED)
                      GA=0.000007/1 (GnomAD)
                      HGVS:
                      15.
                      16.

                      rs1459541316 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        19:52322324 (GRCh38)
                        19:52825577 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:52322323:T:G
                        Gene:
                        ZNF480 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        17.

                        rs1458724215 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:52321796 (GRCh38)
                          19:52825049 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:52321795:T:C
                          Gene:
                          ZNF480 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000028/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          19.

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