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Items: 1 to 20 of 32177

1.

rs1491579684 has merged into rs35645656 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
    Chromosome:
    8:31130630 (GRCh38)
    8:30988146 (GRCh37)
    Canonical SPDI:
    NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31130618:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
    Gene:
    WRN (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    TT=0.1126/564 (1000Genomes)
    HGVS:
    2.

    rs1491510849 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->AAAAC,AAAC,AAC,AC [Show Flanks]
      Chromosome:
      8:31130024 (GRCh38)
      8:30987541 (GRCh37)
      Canonical SPDI:
      NC_000008.11:31130024::AAAAC,NC_000008.11:31130024::AAAC,NC_000008.11:31130024::AAC,NC_000008.11:31130024::AC
      Gene:
      WRN (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAC=0./0 (ALFA)
      AC=0.00015/2 (TOMMO)
      HGVS:
      3.

      rs1491487292 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        8:31143056 (GRCh38)
        8:31000572 (GRCh37)
        Canonical SPDI:
        NC_000008.11:31143055:TT:
        Gene:
        WRN (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00472/56 (ALFA)
        -=0.00074/11 (TOMMO)
        -=0.0012/2 (Korea1K)
        -=0.12661/2264 (GnomAD)
        HGVS:
        4.

        rs1491467330 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          8:31143055 (GRCh38)
          8:31000571 (GRCh37)
          Canonical SPDI:
          NC_000008.11:31143054:AT:
          Gene:
          WRN (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.05033/597 (ALFA)
          -=0.00014/5 (GnomAD)
          HGVS:
          5.

          rs1491459355 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TT [Show Flanks]
            Chromosome:
            8:31103568 (GRCh38)
            8:30961085 (GRCh37)
            Canonical SPDI:
            NC_000008.11:31103568::TT
            Gene:
            WRN (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by cluster
            HGVS:
            6.

            rs1491456581 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              8:31174881 (GRCh38)
              8:31032398 (GRCh37)
              Canonical SPDI:
              NC_000008.11:31174881::C
              Gene:
              WRN (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000224/1 (ALFA)
              C=0.000077/10 (GnomAD)
              C=0.000668/11 (TOMMO)
              C=0.002183/4 (Korea1K)
              HGVS:
              7.

              rs1491405126 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                8:31130026 (GRCh38)
                8:30987543 (GRCh37)
                Canonical SPDI:
                NC_000008.11:31130026::C
                Gene:
                WRN (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.003035/36 (ALFA)
                C=0.000472/8 (TOMMO)
                C=0.007984/987 (GnomAD)
                C=0.009847/18 (Korea1K)
                HGVS:
                8.

                rs1491392174 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  8:31114893 (GRCh38)
                  8:30972409 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:31114892:GG:
                  Gene:
                  WRN (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.0197/76 (ALSPAC)
                  -=0.0243/90 (TWINSUK)
                  HGVS:
                  9.

                  rs1491368334 has merged into rs111854110 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
                    Chromosome:
                    8:31111850 (GRCh38)
                    8:30969366 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:31111839:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
                    Gene:
                    WRN (Varview)
                    Functional Consequence:
                    intron_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0.00233/56 (ALFA)
                    HGVS:
                    10.

                    rs1491317898 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>-,T,TTT,TTTT [Show Flanks]
                      Chromosome:
                      8:31114912 (GRCh38)
                      8:30972428 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:31114894:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      WRN (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491312873 has merged into rs142679273 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTGTGTGTGTGTGTGTGT>-,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                        Chromosome:
                        8:31092443 (GRCh38)
                        8:30949959 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:31092439:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                        Gene:
                        WRN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGTGTGT=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        TG=0.447085/2239 (1000Genomes)
                        HGVS:
                        12.

                        rs1491305824 has merged into rs71208103 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          8:31131967 (GRCh38)
                          8:30989483 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:31131958:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          WRN (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTT=0./0 (ALFA)
                          -=0.1227/473 (ALSPAC)
                          TT=0.3956/1981 (1000Genomes)
                          HGVS:
                          NC_000008.11:g.31131967_31131977del, NC_000008.11:g.31131969_31131977del, NC_000008.11:g.31131970_31131977del, NC_000008.11:g.31131971_31131977del, NC_000008.11:g.31131972_31131977del, NC_000008.11:g.31131973_31131977del, NC_000008.11:g.31131974_31131977del, NC_000008.11:g.31131975_31131977del, NC_000008.11:g.31131976_31131977del, NC_000008.11:g.31131977del, NC_000008.11:g.31131977dup, NC_000008.11:g.31131976_31131977dup, NC_000008.11:g.31131975_31131977dup, NC_000008.11:g.31131974_31131977dup, NC_000008.10:g.30989483_30989493del, NC_000008.10:g.30989485_30989493del, NC_000008.10:g.30989486_30989493del, NC_000008.10:g.30989487_30989493del, NC_000008.10:g.30989488_30989493del, NC_000008.10:g.30989489_30989493del, NC_000008.10:g.30989490_30989493del, NC_000008.10:g.30989491_30989493del, NC_000008.10:g.30989492_30989493del, NC_000008.10:g.30989493del, NC_000008.10:g.30989493dup, NC_000008.10:g.30989492_30989493dup, NC_000008.10:g.30989491_30989493dup, NC_000008.10:g.30989490_30989493dup, NG_008870.1:g.103706_103716del, NG_008870.1:g.103708_103716del, NG_008870.1:g.103709_103716del, NG_008870.1:g.103710_103716del, NG_008870.1:g.103711_103716del, NG_008870.1:g.103712_103716del, NG_008870.1:g.103713_103716del, NG_008870.1:g.103714_103716del, NG_008870.1:g.103715_103716del, NG_008870.1:g.103716del, NG_008870.1:g.103716dup, NG_008870.1:g.103715_103716dup, NG_008870.1:g.103714_103716dup, NG_008870.1:g.103713_103716dup
                          13.

                          rs1491301295 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CA>-,CACA [Show Flanks]
                            Chromosome:
                            8:31130025 (GRCh38)
                            8:30987541 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:31130023:ACA:A,NC_000008.11:31130023:ACA:ACACA
                            Gene:
                            WRN (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ACACA=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491251570 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              8:31159944 (GRCh38)
                              8:31017460 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:31159943:CA:
                              Gene:
                              WRN (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.00701/27 (ALSPAC)
                              -=0.0116/43 (TWINSUK)
                              HGVS:
                              15.

                              rs1491187054 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                8:31130618 (GRCh38)
                                8:30988134 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:31130617:GT:
                                Gene:
                                WRN (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491173839 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  8:31125538 (GRCh38)
                                  8:30983055 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:31125538:T:TT
                                  Gene:
                                  WRN (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TT=0./0 (ALFA)
                                  T=0.00007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491167293 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AT>- [Show Flanks]
                                    Chromosome:
                                    8:31083894 (GRCh38)
                                    8:30941410 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:31083892:TAT:T
                                    Gene:
                                    WRN (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    -=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491166298 has merged into rs60617461 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AATGAATGAATGAATGAATG>-,AATG,AATGAATG,AATGAATGAATG,AATGAATGAATGAATG,AATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATGAATGAATGAATG [Show Flanks]
                                      Chromosome:
                                      8:31136854 (GRCh38)
                                      8:30994370 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG,NC_000008.11:31136836:GAATGAATGAATGAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATG
                                      Gene:
                                      WRN (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GAATGAATGAATGAATGAATG=0./0 (ALFA)
                                      HGVS:
                                      NC_000008.11:g.31136838AATG[4], NC_000008.11:g.31136838AATG[5], NC_000008.11:g.31136838AATG[6], NC_000008.11:g.31136838AATG[7], NC_000008.11:g.31136838AATG[8], NC_000008.11:g.31136838AATG[10], NC_000008.11:g.31136838AATG[11], NC_000008.11:g.31136838AATG[12], NC_000008.11:g.31136838AATG[13], NC_000008.10:g.30994354AATG[4], NC_000008.10:g.30994354AATG[5], NC_000008.10:g.30994354AATG[6], NC_000008.10:g.30994354AATG[7], NC_000008.10:g.30994354AATG[8], NC_000008.10:g.30994354AATG[10], NC_000008.10:g.30994354AATG[11], NC_000008.10:g.30994354AATG[12], NC_000008.10:g.30994354AATG[13], NG_008870.1:g.108577AATG[4], NG_008870.1:g.108577AATG[5], NG_008870.1:g.108577AATG[6], NG_008870.1:g.108577AATG[7], NG_008870.1:g.108577AATG[8], NG_008870.1:g.108577AATG[10], NG_008870.1:g.108577AATG[11], NG_008870.1:g.108577AATG[12], NG_008870.1:g.108577AATG[13]
                                      19.

                                      rs1491157472 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        8:31060378 (GRCh38)
                                        8:30917894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:31060377:GT:
                                        Gene:
                                        WRN (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491127779 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          8:31122886 (GRCh38)
                                          8:30980402 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:31122884:TCT:T
                                          Gene:
                                          WRN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.00017/2 (ALFA)
                                          HGVS:

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