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Items: 1 to 20 of 1000

1.

rs1491077867 has merged into rs11370284 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATTTTCAATTAACAAGCAAAAAAATATTAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    6:24651136 (GRCh38)
    6:24651364 (GRCh37)
    Canonical SPDI:
    NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24651124:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATTTTCAATTAACAAGCAAAAAAATATTAATAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    TDP2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    -=0.4517/2262 (1000Genomes)
    HGVS:
    NC_000006.12:g.24651136_24651141del, NC_000006.12:g.24651137_24651141del, NC_000006.12:g.24651138_24651141del, NC_000006.12:g.24651139_24651141del, NC_000006.12:g.24651140_24651141del, NC_000006.12:g.24651141del, NC_000006.12:g.24651141dup, NC_000006.12:g.24651140_24651141dup, NC_000006.12:g.24651139_24651141dup, NC_000006.12:g.24651133_24651141dup, NC_000006.12:g.24651130_24651141dup, NC_000006.12:g.24651125_24651141A[23]T[4]CAATTAACAAGCAAAAAAATATTAATAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.24651364_24651369del, NC_000006.11:g.24651365_24651369del, NC_000006.11:g.24651366_24651369del, NC_000006.11:g.24651367_24651369del, NC_000006.11:g.24651368_24651369del, NC_000006.11:g.24651369del, NC_000006.11:g.24651369dup, NC_000006.11:g.24651368_24651369dup, NC_000006.11:g.24651367_24651369dup, NC_000006.11:g.24651361_24651369dup, NC_000006.11:g.24651358_24651369dup, NC_000006.11:g.24651353_24651369A[23]T[4]CAATTAACAAGCAAAAAAATATTAATAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016206.1:g.26_31del, NG_016206.1:g.27_31del, NG_016206.1:g.28_31del, NG_016206.1:g.29_31del, NG_016206.1:g.30_31del, NG_016206.1:g.31del, NG_016206.1:g.31dup, NG_016206.1:g.30_31dup, NG_016206.1:g.29_31dup, NG_016206.1:g.23_31dup, NG_016206.1:g.20_31dup, NG_016206.1:g.15_31T[23]ATTAATATTTTTTTGCTTGTTAATTGAAAATTTTTTTTTTTTTTTTTTTTTTT[1], NG_052787.1:g.20758_20763del, NG_052787.1:g.20759_20763del, NG_052787.1:g.20760_20763del, NG_052787.1:g.20761_20763del, NG_052787.1:g.20762_20763del, NG_052787.1:g.20763del, NG_052787.1:g.20763dup, NG_052787.1:g.20762_20763dup, NG_052787.1:g.20761_20763dup, NG_052787.1:g.20755_20763dup, NG_052787.1:g.20752_20763dup, NG_052787.1:g.20747_20763T[23]ATTAATATTTTTTTGCTTGTTAATTGAAAATTTTTTTTTTTTTTTTTTTTTTT[1]
    2.

    rs1491034713 has merged into rs36036133 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT,TTTTTTTTTTTATTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:24651607 (GRCh38)
      6:24651835 (GRCh37)
      Canonical SPDI:
      NC_000006.12:24651594:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:24651594:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:24651594:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:24651594:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:24651594:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTT
      Gene:
      TDP2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.3065/1289 (1000Genomes)
      HGVS:
      3.

      rs1490863404 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        6:24662585 (GRCh38)
        6:24662813 (GRCh37)
        Canonical SPDI:
        NC_000006.12:24662584:C:G,NC_000006.12:24662584:C:T
        Gene:
        TDP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0./0 (GnomAD)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490847222 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:24663638 (GRCh38)
          6:24663866 (GRCh37)
          Canonical SPDI:
          NC_000006.12:24663637:G:A
          Gene:
          TDP2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490664999 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:24654303 (GRCh38)
            6:24654531 (GRCh37)
            Canonical SPDI:
            NC_000006.12:24654302:G:A
            Gene:
            TDP2 (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:
            6.

            rs1490420266 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:24659341 (GRCh38)
              6:24659569 (GRCh37)
              Canonical SPDI:
              NC_000006.12:24659340:A:G
              Gene:
              TDP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1490394234 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:24659578 (GRCh38)
                6:24659806 (GRCh37)
                Canonical SPDI:
                NC_000006.12:24659577:C:A
                Gene:
                TDP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000029/4 (GnomAD)
                A=0.000038/10 (TOPMED)
                HGVS:
                8.

                rs1490393839 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  6:24661213 (GRCh38)
                  6:24661441 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:24661212:C:G
                  Gene:
                  TDP2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490337236 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CAGAA>- [Show Flanks]
                    Chromosome:
                    6:24655258 (GRCh38)
                    6:24655486 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:24655253:AGAACAGAA:AGAA
                    Gene:
                    TDP2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGAA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490285384 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      6:24656287 (GRCh38)
                      6:24656515 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:24656286:G:A,NC_000006.12:24656286:G:C
                      Gene:
                      TDP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490140200 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        6:24663822 (GRCh38)
                        6:24664050 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:24663821:C:A
                        Gene:
                        TDP2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000084/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490028556 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          6:24664169 (GRCh38)
                          6:24664397 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:24664167:TCT:T
                          Gene:
                          TDP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489976493 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            6:24662631 (GRCh38)
                            6:24662860 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:24662631:A:AA
                            Gene:
                            TDP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AA=0./0 (ALFA)
                            A=0.000057/15 (TOPMED)
                            A=0.000057/8 (GnomAD)
                            HGVS:
                            14.

                            rs1489930232 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:24660485 (GRCh38)
                              6:24660713 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:24660484:A:G
                              Gene:
                              TDP2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1489899471 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:24658168 (GRCh38)
                                6:24658396 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:24658167:A:G
                                Gene:
                                TDP2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000084/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489847669 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  6:24654832 (GRCh38)
                                  6:24655060 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:24654831:GG:G
                                  Gene:
                                  TDP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489796663 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:24655765 (GRCh38)
                                    6:24655993 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:24655764:G:A
                                    Gene:
                                    TDP2 (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:
                                    18.

                                    rs1489705641 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:24664530 (GRCh38)
                                      6:24664758 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:24664529:T:C
                                      Gene:
                                      TDP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489093567 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        6:24649584 (GRCh38)
                                        6:24649812 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:24649583:A:C
                                        Gene:
                                        TDP2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        C=0.0147/27 (Korea1K)
                                        A=0.5/1 (Siberian)
                                        HGVS:
                                        20.

                                        rs1489004436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:24661328 (GRCh38)
                                          6:24661556 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:24661327:A:G
                                          Gene:
                                          TDP2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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