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Items: 1 to 20 of 2857

1.

rs1491528750 has merged into rs11390399 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    9:87147693 (GRCh38)
    9:89762608 (GRCh37)
    Canonical SPDI:
    NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:87147684:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC02872 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    -=0.148/741 (1000Genomes)
    -=0.1958/796 (Estonian)
    -=0.225/9 (GENOME_DK)
    HGVS:
    2.

    rs1491379961 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->A
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1490897240 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        9:87155765 (GRCh38)
        9:89770681 (GRCh37)
        Canonical SPDI:
        NC_000009.12:87155765:AAAAAAA:AAAAAAAA
        Gene:
        LINC02872 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        A=0.000212/4 (TOMMO)
        A=0.003275/6 (Korea1K)
        HGVS:
        4.

        rs1490827652 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:87156880 (GRCh38)
          9:89771795 (GRCh37)
          Canonical SPDI:
          NC_000009.12:87156879:T:C
          Gene:
          LINC02872 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490534587 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GGGAACTGGCTGGCCGCGGTCCCTT>- [Show Flanks]
            Chromosome:
            9:87148518 (GRCh38)
            9:89763433 (GRCh37)
            Canonical SPDI:
            NC_000009.12:87148517:GGGAACTGGCTGGCCGCGGTCCCTT:
            Gene:
            LINC02872 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489972790 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              9:87156393 (GRCh38)
              9:89771308 (GRCh37)
              Canonical SPDI:
              NC_000009.12:87156392:C:A
              Gene:
              LINC02872 (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:
              7.

              rs1489783948 has merged into rs5898976 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA [Show Flanks]
                Chromosome:
                9:87147256 (GRCh38)
                9:89762171 (GRCh37)
                Canonical SPDI:
                NC_000009.12:87147248:AAAAAAAAA:AAAAAAA,NC_000009.12:87147248:AAAAAAAAA:AAAAAAAA,NC_000009.12:87147248:AAAAAAAAA:AAAAAAAAAA
                Gene:
                LINC02872 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                A=0.063865/117 (Korea1K)
                A=0.121174/607 (1000Genomes)
                A=0.148494/39305 (TOPMED)
                A=0.17567/787 (Estonian)
                A=0.180602/108 (NorthernSweden)
                A=0.203883/756 (TWINSUK)
                A=0.211423/211 (GoNL)
                A=0.213804/824 (ALSPAC)
                A=0.225/9 (GENOME_DK)
                HGVS:
                8.

                rs1489588761 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  9:87154459 (GRCh38)
                  9:89769374 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:87154458:C:A
                  Gene:
                  LINC02872 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000342/1 (KOREAN)
                  HGVS:
                  9.

                  rs1489286325 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CC>- [Show Flanks]
                    Chromosome:
                    9:87150338 (GRCh38)
                    9:89765253 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:87150334:CCCCC:CCC
                    Gene:
                    LINC02872 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CCC=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489209882 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      9:87159135 (GRCh38)
                      9:89774050 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:87159134:C:A,NC_000009.12:87159134:C:T
                      Gene:
                      LINC02872 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488339590 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        9:87149800 (GRCh38)
                        9:89764715 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:87149799:G:A,NC_000009.12:87149799:G:C
                        Gene:
                        LINC02872 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488264215 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:87157357 (GRCh38)
                          9:89772272 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:87157356:C:T
                          Gene:
                          LINC02872 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488190989 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            9:87158468 (GRCh38)
                            9:89773383 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:87158467:T:A,NC_000009.12:87158467:T:G
                            Gene:
                            LINC02872 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1488186971 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              9:87148601 (GRCh38)
                              9:89763516 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:87148600:G:A,NC_000009.12:87148600:G:C
                              Gene:
                              LINC02872 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488136983 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:87160028 (GRCh38)
                                9:89774943 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:87160027:T:C
                                Gene:
                                LINC02872 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000198/3 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                C=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1487376577 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:87158767 (GRCh38)
                                  9:89773682 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:87158766:A:G
                                  Gene:
                                  LINC02872 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000064/17 (TOPMED)
                                  G=0.000078/11 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487171191 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:87157857 (GRCh38)
                                    9:89772772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:87157856:T:C
                                    Gene:
                                    LINC02872 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487071806 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:87147613 (GRCh38)
                                      9:89762528 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:87147612:C:G
                                      Gene:
                                      LINC02872 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486612067 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        9:87159181 (GRCh38)
                                        9:89774096 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:87159180:A:C
                                        Gene:
                                        LINC02872 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486429464 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:87152959 (GRCh38)
                                          9:89767874 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:87152958:A:G
                                          Gene:
                                          LINC02872 (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:

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