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Items: 1 to 20 of 25490

1.

rs1491583436 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GG>- [Show Flanks]
    Chromosome:
    18:73203756 (GRCh38)
    18:70870991 (GRCh37)
    Canonical SPDI:
    NC_000018.10:73203755:GG:
    Gene:
    LINC02864 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491574561 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>-,CACA [Show Flanks]
      Chromosome:
      18:73207375 (GRCh38)
      18:70874610 (GRCh37)
      Canonical SPDI:
      NC_000018.10:73207373:ACA:A,NC_000018.10:73207373:ACA:ACACA
      Gene:
      LINC02864 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      ACACA=0./0 (ALFA)
      HGVS:
      3.

      rs1491564979 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>-,CACA [Show Flanks]
        Chromosome:
        18:73207005 (GRCh38)
        18:70874240 (GRCh37)
        Canonical SPDI:
        NC_000018.10:73207001:ACACA:ACA,NC_000018.10:73207001:ACACA:ACACACA
        Gene:
        LINC02864 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACA=0.00098/16 (ALFA)
        HGVS:
        4.

        rs1491558622 has merged into rs1479324902 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATAT,ATATAT,ATATATAT,ATATGTTTTACACATATATGTTTTACACATATGTTTTACATATATATGTTTTACATATATATAT,ATATGTTTTACACATATGTTTTACATATATATGTTTTACATATATATAT [Show Flanks]
          Chromosome:
          18:73207079 (GRCh38)
          18:70874314 (GRCh37)
          Canonical SPDI:
          NC_000018.10:73207076:ATAT:AT,NC_000018.10:73207076:ATAT:ATATAT,NC_000018.10:73207076:ATAT:ATATATAT,NC_000018.10:73207076:ATAT:ATATATATAT,NC_000018.10:73207076:ATAT:ATATATGTTTTACACATATATGTTTTACACATATGTTTTACATATATATGTTTTACATATATATAT,NC_000018.10:73207076:ATAT:ATATATGTTTTACACATATGTTTTACATATATATGTTTTACATATATATAT
          Gene:
          LINC02864 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATATAT=0./0 (ALFA)
          HGVS:
          5.

          rs1491554183 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TAC [Show Flanks]
            Chromosome:
            18:73206986 (GRCh38)
            18:70874222 (GRCh37)
            Canonical SPDI:
            NC_000018.10:73206986::TAC
            Gene:
            LINC02864 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TAC=0.00008/1 (ALFA)
            HGVS:
            6.

            rs1491547774 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              18:73207437 (GRCh38)
              18:70874672 (GRCh37)
              Canonical SPDI:
              NC_000018.10:73207436:TA:
              Gene:
              LINC02864 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.02226/264 (ALFA)
              -=0.00096/28 (GnomAD)
              -=0.01651/224 (TOMMO)
              HGVS:
              7.

              rs1491544549 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                18:73264585 (GRCh38)
                18:70931820 (GRCh37)
                Canonical SPDI:
                NC_000018.10:73264584:CA:
                Gene:
                LINC02864 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00034/4 (ALFA)
                HGVS:
                8.

                rs1491539223 has merged into rs1266303425 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CA>-,CACA [Show Flanks]
                  Chromosome:
                  18:73207503 (GRCh38)
                  18:70874738 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:73207499:ACACA:ACA,NC_000018.10:73207499:ACACA:ACACACA
                  Gene:
                  LINC02864 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACACA=0./0 (ALFA)
                  -=0.0007/10 (TOMMO)
                  -=0.00085/51 (GnomAD)
                  HGVS:
                  9.

                  rs1491536958 has merged into rs376307522 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                    Chromosome:
                    18:73206240 (GRCh38)
                    18:70873475 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000018.10:73206219:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                    Gene:
                    LINC02864 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACACACACACACACACACACAC=0./0 (ALFA)
                    AC=0.4598/1772 (ALSPAC)
                    AC=0.4622/1714 (TWINSUK)
                    HGVS:
                    NC_000018.10:g.73206220AC[10], NC_000018.10:g.73206220AC[11], NC_000018.10:g.73206220AC[12], NC_000018.10:g.73206220AC[13], NC_000018.10:g.73206220AC[14], NC_000018.10:g.73206220AC[15], NC_000018.10:g.73206220AC[16], NC_000018.10:g.73206220AC[17], NC_000018.10:g.73206220AC[18], NC_000018.10:g.73206220AC[19], NC_000018.10:g.73206220AC[21], NC_000018.10:g.73206220AC[22], NC_000018.10:g.73206220AC[23], NC_000018.10:g.73206220AC[24], NC_000018.10:g.73206220AC[25], NC_000018.10:g.73206220AC[26], NC_000018.10:g.73206220AC[27], NC_000018.10:g.73206220AC[28], NC_000018.10:g.73206220AC[29], NC_000018.9:g.70873455AC[10], NC_000018.9:g.70873455AC[11], NC_000018.9:g.70873455AC[12], NC_000018.9:g.70873455AC[13], NC_000018.9:g.70873455AC[14], NC_000018.9:g.70873455AC[15], NC_000018.9:g.70873455AC[16], NC_000018.9:g.70873455AC[17], NC_000018.9:g.70873455AC[18], NC_000018.9:g.70873455AC[19], NC_000018.9:g.70873455AC[21], NC_000018.9:g.70873455AC[22], NC_000018.9:g.70873455AC[23], NC_000018.9:g.70873455AC[24], NC_000018.9:g.70873455AC[25], NC_000018.9:g.70873455AC[26], NC_000018.9:g.70873455AC[27], NC_000018.9:g.70873455AC[28], NC_000018.9:g.70873455AC[29]
                    10.

                    rs1491535805 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CA>-,CACA [Show Flanks]
                      Chromosome:
                      18:73207326 (GRCh38)
                      18:70874561 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:73207324:ACA:A,NC_000018.10:73207324:ACA:ACACA
                      Gene:
                      LINC02864 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      ACACA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491519476 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TA>- [Show Flanks]
                        Chromosome:
                        18:73207341 (GRCh38)
                        18:70874576 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:73207340:TA:
                        Gene:
                        LINC02864 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491514893 has merged into rs1555726365 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CA>-,CACA [Show Flanks]
                          Chromosome:
                          18:73207602 (GRCh38)
                          18:70874837 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:73207597:CACACA:CACA,NC_000018.10:73207597:CACACA:CACACACA
                          Gene:
                          LINC02864 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CACACACA=0./0 (ALFA)
                          -=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1491492823 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GT,GTATGT [Show Flanks]
                            Chromosome:
                            18:73207049 (GRCh38)
                            18:70874285 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:73207049:T:TGT,NC_000018.10:73207049:T:TGTATGT
                            Gene:
                            LINC02864 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGTATGT=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491481700 has merged into rs749400046 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AT>-,ATAT,ATATAT,ATATGTTTTACACATATAT,ATATGTTTTACACATATATGTTTTACACATATAT,ATATGTTTTACACATATGTTTTACACATATAT,ATATGTTTTACATATAT [Show Flanks]
                              Chromosome:
                              18:73207051 (GRCh38)
                              18:70874286 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:73207048:ATAT:AT,NC_000018.10:73207048:ATAT:ATATAT,NC_000018.10:73207048:ATAT:ATATATAT,NC_000018.10:73207048:ATAT:ATATATGTTTTACACATATAT,NC_000018.10:73207048:ATAT:ATATATGTTTTACACATATATGTTTTACACATATAT,NC_000018.10:73207048:ATAT:ATATATGTTTTACACATATGTTTTACACATATAT,NC_000018.10:73207048:ATAT:ATATATGTTTTACATATAT
                              Gene:
                              LINC02864 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATATAT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491473336 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TA>- [Show Flanks]
                                Chromosome:
                                18:73207469 (GRCh38)
                                18:70874704 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:73207468:TA:
                                Gene:
                                LINC02864 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.00024/19 (GnomAD)
                                -=0.01901/312 (TOMMO)
                                HGVS:
                                16.

                                rs1491467094 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  18:73162410 (GRCh38)
                                  18:70829646 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:73162410::T
                                  Gene:
                                  LINC02864 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1491454690 has merged into rs1175440717 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>-,CACA [Show Flanks]
                                    Chromosome:
                                    18:73207033 (GRCh38)
                                    18:70874268 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:73207029:ACACA:ACA,NC_000018.10:73207029:ACACA:ACACACA
                                    Gene:
                                    LINC02864 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACA=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491453508 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      GT>- [Show Flanks]
                                      Chromosome:
                                      18:73203757 (GRCh38)
                                      18:70870992 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:73203756:GT:
                                      Gene:
                                      LINC02864 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000027/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491440105 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        18:73207499 (GRCh38)
                                        18:70874734 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:73207498:TA:
                                        Gene:
                                        LINC02864 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.00051/6 (ALFA)
                                        -=0.00159/140 (GnomAD)
                                        -=0.00374/58 (TOMMO)
                                        -=0.00891/15 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1491431259 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TA>- [Show Flanks]
                                          Chromosome:
                                          18:73207373 (GRCh38)
                                          18:70874608 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:73207372:TA:
                                          Gene:
                                          LINC02864 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.00767/91 (ALFA)
                                          -=0.00003/2 (GnomAD)
                                          -=0.00022/4 (TOMMO)
                                          HGVS:

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