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Links from Gene

Items: 1 to 20 of 5432

1.

rs1490885286 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    7:100078911 (GRCh38)
    7:99676534 (GRCh37)
    Canonical SPDI:
    NC_000007.14:100078907:AGAGA:AGA
    Gene:
    ZNF3 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGA=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490817458 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:100072787 (GRCh38)
      7:99670410 (GRCh37)
      Canonical SPDI:
      NC_000007.14:100072786:G:A
      Gene:
      ZNF3 (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:
      3.

      rs1490679467 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:100071724 (GRCh38)
        7:99669347 (GRCh37)
        Canonical SPDI:
        NC_000007.14:100071723:T:C
        Gene:
        ZNF3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000007.14:g.100071724T>C, NC_000007.13:g.99669347T>C, NM_032924.5:c.760A>G, NM_032924.4:c.760A>G, XM_024446928.2:c.667A>G, XM_024446928.1:c.667A>G, NM_001362775.2:c.781A>G, NM_001362775.1:c.781A>G, XM_024446921.2:c.775A>G, XM_024446921.1:c.775A>G, NM_001278284.2:c.760A>G, NM_001278284.1:c.760A>G, NM_001278287.2:c.760A>G, NM_001278287.1:c.760A>G, NM_001362777.2:c.652A>G, NM_001362777.1:c.652A>G, NM_001318136.2:c.781A>G, NM_001318136.1:c.781A>G, XM_024446919.2:c.775A>G, XM_024446919.1:c.775A>G, XM_024446920.2:c.775A>G, XM_024446920.1:c.775A>G, NM_001318135.2:c.760A>G, NM_001318135.1:c.760A>G, NM_001362776.2:c.775A>G, NM_001362776.1:c.775A>G, XM_024446925.2:c.667A>G, XM_024446925.1:c.667A>G, NM_001278290.2:c.760A>G, NM_001278290.1:c.760A>G, NM_001278292.2:c.652A>G, NM_001278292.1:c.652A>G, XM_024446927.2:c.667A>G, XM_024446927.1:c.667A>G, NM_001278291.2:c.652A>G, NM_001278291.1:c.652A>G, NM_001371217.1:c.781A>G, NM_001371211.1:c.760A>G, NM_001371213.1:c.760A>G, NM_001371218.1:c.523A>G, NM_001371212.1:c.760A>G, NM_001371214.1:c.760A>G, NM_001371216.1:c.652A>G, NM_001371215.1:c.652A>G, NP_116313.3:p.Lys254Glu, XP_024302696.1:p.Lys223Glu, NP_001349704.1:p.Lys261Glu, XP_024302689.1:p.Lys259Glu, NP_001265213.1:p.Lys254Glu, NP_001265216.1:p.Lys254Glu, NP_001349706.1:p.Lys218Glu, NP_001305065.1:p.Lys261Glu, XP_024302687.1:p.Lys259Glu, XP_024302688.1:p.Lys259Glu, NP_001305064.1:p.Lys254Glu, NP_001349705.1:p.Lys259Glu, XP_024302693.1:p.Lys223Glu, NP_001265219.1:p.Lys254Glu, NP_001265221.1:p.Lys218Glu, XP_024302695.1:p.Lys223Glu, NP_001265220.1:p.Lys218Glu, NP_001358146.1:p.Lys261Glu, NP_001358140.1:p.Lys254Glu, NP_001358142.1:p.Lys254Glu, NP_001358147.1:p.Lys175Glu, NP_001358141.1:p.Lys254Glu, NP_001358143.1:p.Lys254Glu, NP_001358145.1:p.Lys218Glu, NP_001358144.1:p.Lys218Glu
        4.

        rs1490624193 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:100066204 (GRCh38)
          7:99663827 (GRCh37)
          Canonical SPDI:
          NC_000007.14:100066203:G:A
          Gene:
          ZNF3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1490395326 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:100079337 (GRCh38)
            7:99676960 (GRCh37)
            Canonical SPDI:
            NC_000007.14:100079336:T:C
            Gene:
            ZNF3 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000034/9 (TOPMED)
            HGVS:
            6.

            rs1490371337 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              7:100080349 (GRCh38)
              7:99677972 (GRCh37)
              Canonical SPDI:
              NC_000007.14:100080348:C:A
              Gene:
              ZNF3 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490281809 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>- [Show Flanks]
                Chromosome:
                7:100077680 (GRCh38)
                7:99675303 (GRCh37)
                Canonical SPDI:
                NC_000007.14:100077678:CCC:C
                Gene:
                ZNF3 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                9.

                rs1489787267 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:100078102 (GRCh38)
                  7:99675725 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:100078101:C:T
                  Gene:
                  ZNF3 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  10.

                  rs1489749073 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:100081742 (GRCh38)
                    7:99679365 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:100081741:C:T
                    Gene:
                    ZNF3 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    11.

                    rs1489365696 has merged into rs1195614527 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTT>-,TT,TTTT,TTTTTT [Show Flanks]
                      Chromosome:
                      7:100069626 (GRCh38)
                      7:99667249 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:100069620:TTTTTTTTTT:TTTTT,NC_000007.14:100069620:TTTTTTTTTT:TTTTTTT,NC_000007.14:100069620:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:100069620:TTTTTTTTTT:TTTTTTTTTTT
                      Gene:
                      ZNF3 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      T=0.000212/4 (TOMMO)
                      HGVS:
                      12.
                      16.

                      rs1489163849 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:100078197 (GRCh38)
                        7:99675820 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:100078196:A:G
                        Gene:
                        ZNF3 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        17.

                        rs1489132214 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          7:100077585 (GRCh38)
                          7:99675208 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:100077584:T:A
                          Gene:
                          ZNF3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          18.

                          rs1489131771 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:100077194 (GRCh38)
                            7:99674817 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:100077193:T:C
                            Gene:
                            ZNF3 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            19.

                            rs1489001333 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              7:100078504 (GRCh38)
                              7:99676128 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:100078504::T
                              Gene:
                              ZNF3 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              20.

                              rs1488926115 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                7:100074702 (GRCh38)
                                7:99672325 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:100074701:T:A
                                Gene:
                                ZNF3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:

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