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Items: 1 to 20 of 1000

1.

rs1491388077 has merged into rs1403994670 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    10:28856538 (GRCh38)
    10:29145467 (GRCh37)
    Canonical SPDI:
    NC_000010.11:28856536:ATA:A
    Gene:
    C10orf126 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.00202/24 (ALFA)
    HGVS:
    2.

    rs1491382152 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTTTCTTTCTT [Show Flanks]
      Chromosome:
      10:28858407 (GRCh38)
      10:29147337 (GRCh37)
      Canonical SPDI:
      NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTTTCTTTCTT
      Gene:
      C10orf126 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTCTTTCTTTCTTTCTTTCTT=0./0 (ALFA)
      TTCTTTCTTTCTTTCTTTCTTTC=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491316920 has merged into rs10718562 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        10:28877250 (GRCh38)
        10:29166179 (GRCh37)
        Canonical SPDI:
        NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        C10orf126 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        -=0.1295/499 (ALSPAC)
        -=0.134/497 (TWINSUK)
        -=0.4097/2052 (1000Genomes)
        HGVS:
        4.

        rs1491135300 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          10:28877240 (GRCh38)
          10:29166170 (GRCh37)
          Canonical SPDI:
          NC_000010.11:28877240::G
          Gene:
          C10orf126 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1491130586 has merged into rs35587006 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            10:28877678 (GRCh38)
            10:29166607 (GRCh37)
            Canonical SPDI:
            NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            C10orf126 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            AA=0.3612/1809 (1000Genomes)
            HGVS:
            NC_000010.11:g.28877678_28877689del, NC_000010.11:g.28877679_28877689del, NC_000010.11:g.28877680_28877689del, NC_000010.11:g.28877681_28877689del, NC_000010.11:g.28877682_28877689del, NC_000010.11:g.28877683_28877689del, NC_000010.11:g.28877685_28877689del, NC_000010.11:g.28877686_28877689del, NC_000010.11:g.28877687_28877689del, NC_000010.11:g.28877688_28877689del, NC_000010.11:g.28877689del, NC_000010.11:g.28877689dup, NC_000010.11:g.28877688_28877689dup, NC_000010.11:g.28877687_28877689dup, NC_000010.11:g.28877686_28877689dup, NC_000010.11:g.28877685_28877689dup, NC_000010.11:g.28877684_28877689dup, NC_000010.10:g.29166607_29166618del, NC_000010.10:g.29166608_29166618del, NC_000010.10:g.29166609_29166618del, NC_000010.10:g.29166610_29166618del, NC_000010.10:g.29166611_29166618del, NC_000010.10:g.29166612_29166618del, NC_000010.10:g.29166614_29166618del, NC_000010.10:g.29166615_29166618del, NC_000010.10:g.29166616_29166618del, NC_000010.10:g.29166617_29166618del, NC_000010.10:g.29166618del, NC_000010.10:g.29166618dup, NC_000010.10:g.29166617_29166618dup, NC_000010.10:g.29166616_29166618dup, NC_000010.10:g.29166615_29166618dup, NC_000010.10:g.29166614_29166618dup, NC_000010.10:g.29166613_29166618dup
            6.

            rs1491070437 has merged into rs112530422 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>-,GGGG [Show Flanks]
              Chromosome:
              10:28863645 (GRCh38)
              10:29152574 (GRCh37)
              Canonical SPDI:
              NC_000010.11:28863643:GGG:G,NC_000010.11:28863643:GGG:GGGGG
              Gene:
              C10orf126 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGG=0./0 (ALFA)
              -=0.00055/1 (Korea1K)
              HGVS:
              7.

              rs1490988961 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:28858817 (GRCh38)
                10:29147746 (GRCh37)
                Canonical SPDI:
                NC_000010.11:28858816:T:C
                Gene:
                C10orf126 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1490958048 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TTTT [Show Flanks]
                  Chromosome:
                  10:28882306 (GRCh38)
                  10:29171236 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:28882306::TTTT
                  Gene:
                  C10orf126 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  TTTT=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490841612 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    10:28859758 (GRCh38)
                    10:29148687 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:28859757:C:G
                    Gene:
                    C10orf126 (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:
                    10.

                    rs1490788289 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      10:28874101 (GRCh38)
                      10:29163030 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:28874100:A:C
                      Gene:
                      C10orf126 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490692270 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:28867640 (GRCh38)
                        10:29156569 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:28867639:C:T
                        Gene:
                        C10orf126 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000025/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490627449 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          10:28865955 (GRCh38)
                          10:29154884 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:28865954:T:G
                          Gene:
                          C10orf126 (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:
                          13.

                          rs1490519650 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CTCT [Show Flanks]
                            Chromosome:
                            10:28849044 (GRCh38)
                            10:29137974 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:28849044:TCTCT:TCTCTCTCT
                            Gene:
                            C10orf126 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TCTCTCTCT=0.000224/1 (ALFA)
                            TCTC=0.000007/1 (GnomAD)
                            TCTC=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1490500695 has merged into rs1482685696 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>-,GG [Show Flanks]
                              Chromosome:
                              10:28859314 (GRCh38)
                              10:29148243 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:28859313:GGGGGGGG:GGGGGGG,NC_000010.11:28859313:GGGGGGGG:GGGGGGGGG
                              Gene:
                              C10orf126 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGGGGGGG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490483408 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:28851571 (GRCh38)
                                10:29140500 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:28851570:A:G
                                Gene:
                                C10orf126 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000021/3 (GnomAD)
                                G=0.000045/12 (TOPMED)
                                HGVS:
                                16.

                                rs1490434392 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TGTCG [Show Flanks]
                                  Chromosome:
                                  10:28853445 (GRCh38)
                                  10:29142375 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:28853445:CGTGTCG:CGTGTCGTGTCG
                                  Gene:
                                  C10orf126 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CGTGTCGTGTCG=0.000142/2 (ALFA)
                                  CGTGT=0.00003/8 (TOPMED)
                                  CGTGT=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490351573 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    10:28860183 (GRCh38)
                                    10:29149112 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:28860182:T:A
                                    Gene:
                                    C10orf126 (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:
                                    18.

                                    rs1490345025 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AGA>- [Show Flanks]
                                      Chromosome:
                                      10:28879547 (GRCh38)
                                      10:29168476 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:28879544:GAAGA:GA
                                      Gene:
                                      C10orf126 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GA=0.000071/1 (ALFA)
                                      -=0.000036/5 (GnomAD)
                                      -=0.000038/10 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490328888 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        10:28880550 (GRCh38)
                                        10:29169479 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:28880549:T:G
                                        Gene:
                                        C10orf126 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490175340 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:28858421 (GRCh38)
                                          10:29147350 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:28858420:T:C
                                          Gene:
                                          C10orf126 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/2 (GnomAD)
                                          HGVS:

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