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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491579730 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    11:119008442 (GRCh38)
    11:118879152 (GRCh37)
    Canonical SPDI:
    NC_000011.10:119008440:TAT:T
    Gene:
    CENATAC (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.0002/1 (ALFA)
    -=0.0002/1 (Estonian)
    HGVS:
    2.

    rs1491516951 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      GC>-
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491312319 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        11:119005069 (GRCh38)
        11:118875780 (GRCh37)
        Canonical SPDI:
        NC_000011.10:119005069::A
        Gene:
        CENATAC (Varview), RPL23AP64 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.0002/1 (ALFA)
        A=0.0002/1 (Estonian)
        HGVS:
        4.

        rs1491279249 has merged into rs10680026 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          11:119014969 (GRCh38)
          11:118885679 (GRCh37)
          Canonical SPDI:
          NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119014958:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          CENATAC (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          -=0.000091/24 (TOPMED)
          AAA=0.040808/101 (1000Genomes)
          HGVS:
          NC_000011.10:g.119014969_119014974del, NC_000011.10:g.119014970_119014974del, NC_000011.10:g.119014971_119014974del, NC_000011.10:g.119014972_119014974del, NC_000011.10:g.119014973_119014974del, NC_000011.10:g.119014974del, NC_000011.10:g.119014974dup, NC_000011.10:g.119014973_119014974dup, NC_000011.10:g.119014972_119014974dup, NC_000011.10:g.119014971_119014974dup, NC_000011.10:g.119014970_119014974dup, NC_000011.10:g.119014969_119014974dup, NC_000011.10:g.119014968_119014974dup, NC_000011.9:g.118885679_118885684del, NC_000011.9:g.118885680_118885684del, NC_000011.9:g.118885681_118885684del, NC_000011.9:g.118885682_118885684del, NC_000011.9:g.118885683_118885684del, NC_000011.9:g.118885684del, NC_000011.9:g.118885684dup, NC_000011.9:g.118885683_118885684dup, NC_000011.9:g.118885682_118885684dup, NC_000011.9:g.118885681_118885684dup, NC_000011.9:g.118885680_118885684dup, NC_000011.9:g.118885679_118885684dup, NC_000011.9:g.118885678_118885684dup, NG_050577.1:g.25617_25622del, NG_050577.1:g.25618_25622del, NG_050577.1:g.25619_25622del, NG_050577.1:g.25620_25622del, NG_050577.1:g.25621_25622del, NG_050577.1:g.25622del, NG_050577.1:g.25622dup, NG_050577.1:g.25621_25622dup, NG_050577.1:g.25620_25622dup, NG_050577.1:g.25619_25622dup, NG_050577.1:g.25618_25622dup, NG_050577.1:g.25617_25622dup, NG_050577.1:g.25616_25622dup, NW_009646203.1:g.36569_36574del, NW_009646203.1:g.36570_36574del, NW_009646203.1:g.36571_36574del, NW_009646203.1:g.36572_36574del, NW_009646203.1:g.36573_36574del, NW_009646203.1:g.36574del, NW_009646203.1:g.36574dup, NW_009646203.1:g.36573_36574dup, NW_009646203.1:g.36572_36574dup, NW_009646203.1:g.36571_36574dup, NW_009646203.1:g.36570_36574dup, NW_009646203.1:g.36569_36574dup, NW_009646203.1:g.36568_36574dup, NW_003871076.1:g.36569_36574del, NW_003871076.1:g.36570_36574del, NW_003871076.1:g.36571_36574del, NW_003871076.1:g.36572_36574del, NW_003871076.1:g.36573_36574del, NW_003871076.1:g.36574del, NW_003871076.1:g.36574dup, NW_003871076.1:g.36573_36574dup, NW_003871076.1:g.36572_36574dup, NW_003871076.1:g.36571_36574dup, NW_003871076.1:g.36570_36574dup, NW_003871076.1:g.36569_36574dup, NW_003871076.1:g.36568_36574dup
          5.

          rs1491276764 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            11:119014957 (GRCh38)
            11:118885667 (GRCh37)
            Canonical SPDI:
            NC_000011.10:119014956:TT:
            Gene:
            CENATAC (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            7.

            rs1490807540 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              11:119003011 (GRCh38)
              11:118873721 (GRCh37)
              Canonical SPDI:
              NC_000011.10:119003010:TT:T
              Gene:
              CENATAC (Varview), RPL23AP64 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1490721260 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:119007404 (GRCh38)
                11:118878114 (GRCh37)
                Canonical SPDI:
                NC_000011.10:119007403:A:G
                Gene:
                CENATAC (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.00068/2 (KOREAN)
                HGVS:
                9.

                rs1490557947 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:119007887 (GRCh38)
                  11:118878597 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:119007886:T:C
                  Gene:
                  CENATAC (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  10.

                  rs1490026812 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:119013648 (GRCh38)
                    11:118884358 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:119013647:A:G
                    Gene:
                    CENATAC (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    11.

                    rs1490004444 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      11:119005933 (GRCh38)
                      11:118876643 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:119005932:A:T
                      Gene:
                      CENATAC (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.0002/1 (ALFA)
                      T=0.025/73 (KOREAN)
                      HGVS:
                      12.

                      rs1489919516 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        11:119014578 (GRCh38)
                        11:118885288 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:119014577:A:C
                        Gene:
                        CENATAC (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1489862315 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:119013919 (GRCh38)
                          11:118884629 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:119013918:A:G
                          Gene:
                          CENATAC (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1489759744 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TAGAG>- [Show Flanks]
                            Chromosome:
                            11:119010320 (GRCh38)
                            11:118881030 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:119010315:AGAGTAGAG:AGAG
                            Gene:
                            CENATAC (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGAG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            -=0.000546/1 (Korea1K)
                            HGVS:
                            15.

                            rs1489733390 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:119009267 (GRCh38)
                              11:118879977 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:119009266:C:T
                              Gene:
                              CENATAC (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000021/3 (GnomAD)
                              T=0.000034/9 (TOPMED)
                              HGVS:
                              16.

                              rs1489607474 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                11:119000157 (GRCh38)
                                11:118870867 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:119000156:A:T
                                Gene:
                                CENATAC (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1489559847 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GAGGTTGAGACAGGAGAA [Show Flanks]
                                  Chromosome:
                                  11:119000650 (GRCh38)
                                  11:118871361 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:119000650:GAGGTTGAGACAGGAGAA:GAGGTTGAGACAGGAGAAGAGGTTGAGACAGGAGAA
                                  Gene:
                                  CENATAC (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GAGGTTGAGACAGGAGAAGAGGTTGAGACAGGAGAA=0./0 (ALFA)
                                  GAGGTTGAGACAGGAGAA=0.000011/3 (TOPMED)
                                  GAGGTTGAGACAGGAGAA=0.000021/3 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1489558742 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:119007246 (GRCh38)
                                    11:118877956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:119007245:T:C
                                    Gene:
                                    CENATAC (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1489538393 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:119012650 (GRCh38)
                                      11:118883360 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:119012649:C:T
                                      Gene:
                                      CENATAC (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1489502811 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:119006649 (GRCh38)
                                        11:118877359 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:119006648:G:A
                                        Gene:
                                        CENATAC (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000142/2 (ALFA)
                                        A=0.000071/1 (TOMMO)
                                        A=0.000076/20 (TOPMED)
                                        A=0.000078/11 (GnomAD)
                                        HGVS:

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