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Items: 1 to 20 of 597

1.

rs1489045885 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    1:37475729 (GRCh38)
    1:37941330 (GRCh37)
    Canonical SPDI:
    NC_000001.11:37475728:C:G
    Gene:
    ZC3H12A (Varview), ZC3H12A-DT (Varview)
    Functional Consequence:
    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1488529522 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:37480420 (GRCh38)
      1:37946021 (GRCh37)
      Canonical SPDI:
      NC_000001.11:37480419:C:G
      Gene:
      ZC3H12A (Varview), MIR6732 (Varview)
      Functional Consequence:
      500B_downstream_variant,coding_sequence_variant,5_prime_UTR_variant,downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1486689325 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:37483381 (GRCh38)
        1:37948982 (GRCh37)
        Canonical SPDI:
        NC_000001.11:37483380:C:T
        Gene:
        ZC3H12A (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000016/4 (GnomAD_exomes)
        HGVS:
        5.

        rs1484741597 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:37482744 (GRCh38)
          1:37948345 (GRCh37)
          Canonical SPDI:
          NC_000001.11:37482743:A:G
          Gene:
          ZC3H12A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1484371460 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:37483167 (GRCh38)
            1:37948768 (GRCh37)
            Canonical SPDI:
            NC_000001.11:37483166:G:T
            Gene:
            ZC3H12A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (GnomAD_exomes)
            T=0.000008/2 (TOPMED)
            HGVS:
            8.

            rs1483369151 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:37481773 (GRCh38)
              1:37947374 (GRCh37)
              Canonical SPDI:
              NC_000001.11:37481772:G:A
              Gene:
              ZC3H12A (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              9.

              rs1482784344 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:37481689 (GRCh38)
                1:37947290 (GRCh37)
                Canonical SPDI:
                NC_000001.11:37481688:T:C
                Gene:
                ZC3H12A (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                10.

                rs1476187466 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:37480356 (GRCh38)
                  1:37945957 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:37480355:G:C
                  Gene:
                  ZC3H12A (Varview), MIR6732 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant,5_prime_UTR_variant
                  HGVS:
                  11.

                  rs1475399993 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:37483012 (GRCh38)
                    1:37948613 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:37483011:T:C
                    Gene:
                    ZC3H12A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    12.

                    rs1475022418 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:37483394 (GRCh38)
                      1:37948995 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:37483393:T:C
                      Gene:
                      ZC3H12A (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000028/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      13.

                      rs1474839196 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:37482765 (GRCh38)
                        1:37948366 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:37482764:C:T
                        Gene:
                        ZC3H12A (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.0003/1 (KOREAN)
                        T=0.0005/1 (Korea1K)
                        HGVS:
                        14.

                        rs1473689136 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:37483217 (GRCh38)
                          1:37948818 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:37483216:C:T
                          Gene:
                          ZC3H12A (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          T=0.000016/4 (GnomAD_exomes)
                          T=0.000025/3 (ExAC)
                          HGVS:
                          15.

                          rs1473411000 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:37483086 (GRCh38)
                            1:37948687 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:37483085:G:A
                            Gene:
                            ZC3H12A (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            16.

                            rs1473340596 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:37483529 (GRCh38)
                              1:37949130 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:37483528:T:C
                              Gene:
                              ZC3H12A (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,3_prime_UTR_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:
                              17.

                              rs1473064581 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:37482784 (GRCh38)
                                1:37948385 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:37482783:C:T
                                Gene:
                                ZC3H12A (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                18.

                                rs1470969271 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CCT>- [Show Flanks]
                                  Chromosome:
                                  1:37475631 (GRCh38)
                                  1:37941232 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:37475630:CCT:
                                  Gene:
                                  ZC3H12A (Varview), ZC3H12A-DT (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,inframe_deletion,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  19.

                                  rs1467840043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:37482798 (GRCh38)
                                    1:37948399 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:37482797:C:T
                                    Gene:
                                    ZC3H12A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
                                    HGVS:
                                    20.

                                    rs1466277881 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:37480290 (GRCh38)
                                      1:37945891 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:37480289:C:T
                                      Gene:
                                      ZC3H12A (Varview), MIR6732 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
                                      HGVS:

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