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Links from Nucleotide

Items: 1 to 20 of 339

1.

rs1485878399 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:12026784 (GRCh38)
    19:12137599 (GRCh37)
    Canonical SPDI:
    NC_000019.10:12026783:G:A
    Gene:
    ZNF433 (Varview), ZNF433-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    A=0.000008/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1479835409 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      19:12026679 (GRCh38)
      19:12137494 (GRCh37)
      Canonical SPDI:
      NC_000019.10:12026678:G:C
      Gene:
      ZNF433 (Varview), ZNF433-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000016/2 (GnomAD_exomes)
      C=0.000029/4 (GnomAD)
      C=0.000038/10 (TOPMED)
      HGVS:
      3.

      rs1478656451 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        19:12026911 (GRCh38)
        19:12137726 (GRCh37)
        Canonical SPDI:
        NC_000019.10:12026910:A:C,NC_000019.10:12026910:A:T
        Gene:
        ZNF433 (Varview), ZNF433-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.0009/4 (ALFA)
        C=0.0011/2 (Korea1K)
        T=0.0123/36 (KOREAN)
        HGVS:
        4.

        rs1476682544 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:11987628 (GRCh38)
          19:12098443 (GRCh37)
          Canonical SPDI:
          NC_000019.10:11987627:A:G
          Gene:
          ZNF433-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1475954734 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:12026983 (GRCh38)
            19:12137798 (GRCh37)
            Canonical SPDI:
            NC_000019.10:12026982:G:A
            Gene:
            ZNF433 (Varview), ZNF433-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1472602098 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:11987669 (GRCh38)
              19:12098484 (GRCh37)
              Canonical SPDI:
              NC_000019.10:11987668:T:C
              Gene:
              ZNF433-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1470234537 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                19:12026774 (GRCh38)
                19:12137589 (GRCh37)
                Canonical SPDI:
                NC_000019.10:12026773:T:A,NC_000019.10:12026773:T:C
                Gene:
                ZNF433 (Varview), ZNF433-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0./0 (GnomAD)
                A=0.000008/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1468534416 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:12026335 (GRCh38)
                  19:12137150 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:12026334:A:G
                  Gene:
                  ZNF433 (Varview), ZNF433-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000034/9 (TOPMED)
                  G=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1467691957 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    19:12026634 (GRCh38)
                    19:12137449 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:12026633:A:T
                    Gene:
                    ZNF433 (Varview), ZNF433-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1465078852 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:11987667 (GRCh38)
                      19:12098482 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:11987666:G:A,NC_000019.10:11987666:G:C
                      Gene:
                      ZNF433-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1461335551 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:12026707 (GRCh38)
                        19:12137522 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:12026706:G:A
                        Gene:
                        ZNF433 (Varview), ZNF433-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000008/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1459839786 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:12026818 (GRCh38)
                          19:12137633 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:12026817:C:G
                          Gene:
                          ZNF433 (Varview), ZNF433-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by cluster
                          HGVS:
                          13.

                          rs1458599621 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:12026811 (GRCh38)
                            19:12137626 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:12026810:A:G
                            Gene:
                            ZNF433 (Varview), ZNF433-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            HGVS:
                            14.

                            rs1456344753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:12026599 (GRCh38)
                              19:12137414 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:12026598:T:C
                              Gene:
                              ZNF433 (Varview), ZNF433-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1452812545 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                19:12027128 (GRCh38)
                                19:12137943 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:12027127:A:T
                                Gene:
                                ZNF433 (Varview), ZNF433-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                T=0.000016/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1447168804 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  19:12026743 (GRCh38)
                                  19:12137558 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:12026742:C:G
                                  Gene:
                                  ZNF433 (Varview), ZNF433-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1445480932 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:12026899 (GRCh38)
                                    19:12137714 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:12026898:T:C
                                    Gene:
                                    ZNF433 (Varview), ZNF433-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1442756036 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      19:12027061 (GRCh38)
                                      19:12137876 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:12027060:G:A,NC_000019.10:12027060:G:C,NC_000019.10:12027060:G:T
                                      Gene:
                                      ZNF433 (Varview), ZNF433-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1442443535 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        19:12027182 (GRCh38)
                                        19:12137998 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:12027182:A:AA
                                        Gene:
                                        ZNF433 (Varview), ZNF433-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1440936446 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          19:12026858 (GRCh38)
                                          19:12137673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:12026857:G:A,NC_000019.10:12026857:G:T
                                          Gene:
                                          ZNF433 (Varview), ZNF433-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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