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Items: 1 to 20 of 6762

1.

rs1491420094 has merged into rs34903480 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
    Chromosome:
    12:113756223 (GRCh38)
    12:114194028 (GRCh37)
    Canonical SPDI:
    NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
    Gene:
    LINC01234 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.25/10 (GENOME_DK)
    T=0.4265/2136 (1000Genomes)
    HGVS:
    2.

    rs1491051309 has merged into rs10622864 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      12:113773283 (GRCh38)
      12:114211088 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LINC01234 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.2979/1492 (1000Genomes)
      HGVS:
      NC_000012.12:g.113773283_113773293del, NC_000012.12:g.113773288_113773293del, NC_000012.12:g.113773291_113773293del, NC_000012.12:g.113773292_113773293del, NC_000012.12:g.113773293del, NC_000012.12:g.113773293dup, NC_000012.12:g.113773292_113773293dup, NC_000012.12:g.113773291_113773293dup, NC_000012.12:g.113773290_113773293dup, NC_000012.12:g.113773289_113773293dup, NC_000012.12:g.113773288_113773293dup, NC_000012.12:g.113773287_113773293dup, NC_000012.12:g.113773286_113773293dup, NC_000012.12:g.113773278_113773293dup, NC_000012.11:g.114211088_114211098del, NC_000012.11:g.114211093_114211098del, NC_000012.11:g.114211096_114211098del, NC_000012.11:g.114211097_114211098del, NC_000012.11:g.114211098del, NC_000012.11:g.114211098dup, NC_000012.11:g.114211097_114211098dup, NC_000012.11:g.114211096_114211098dup, NC_000012.11:g.114211095_114211098dup, NC_000012.11:g.114211094_114211098dup, NC_000012.11:g.114211093_114211098dup, NC_000012.11:g.114211092_114211098dup, NC_000012.11:g.114211091_114211098dup, NC_000012.11:g.114211083_114211098dup
      3.

      rs1491014105 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GC [Show Flanks]
        Chromosome:
        12:113763357 (GRCh38)
        12:114201163 (GRCh37)
        Canonical SPDI:
        NC_000012.12:113763357:GC:GCGC
        Gene:
        LINC01234 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GCGC=0./0 (ALFA)
        GC=0.000007/1 (GnomAD)
        GC=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490986799 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:113760713 (GRCh38)
          12:114198518 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113760712:G:A
          Gene:
          LINC01234 (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:
          5.

          rs1490864240 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            12:113762913 (GRCh38)
            12:114200718 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113762912:A:G,NC_000012.12:113762912:A:T
            Gene:
            LINC01234 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490849449 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:113760521 (GRCh38)
              12:114198326 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113760520:G:A
              Gene:
              LINC01234 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490720132 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:113753422 (GRCh38)
                12:114191227 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113753421:G:A
                Gene:
                LINC01234 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1490619683 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  12:113768394 (GRCh38)
                  12:114206199 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113768393:A:T
                  Gene:
                  LINC01234 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490614692 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    12:113769476 (GRCh38)
                    12:114207281 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113769475:C:A
                    Gene:
                    LINC01234 (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:
                    10.

                    rs1490556401 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:113753855 (GRCh38)
                      12:114191660 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113753854:T:C
                      Gene:
                      LINC01234 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000014/2 (GnomAD)
                      C=0.00003/8 (TOPMED)
                      HGVS:
                      11.

                      rs1490530734 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:113752783 (GRCh38)
                        12:114190588 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113752782:C:T
                        Gene:
                        LINC01234 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490383571 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:113761785 (GRCh38)
                          12:114199590 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113761784:G:A
                          Gene:
                          LINC01234 (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:
                          13.

                          rs1490222137 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:113762262 (GRCh38)
                            12:114200067 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113762261:T:C
                            Gene:
                            LINC01234 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490170853 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              12:113761364 (GRCh38)
                              12:114199169 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113761363:G:A,NC_000012.12:113761363:G:C
                              Gene:
                              LINC01234 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490111502 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:113745254 (GRCh38)
                                12:114183059 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113745253:T:C
                                Gene:
                                LINC01234 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490104176 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:113774193 (GRCh38)
                                  12:114211998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113774192:C:T
                                  Gene:
                                  LINC01234 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000106/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1490000308 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:113746953 (GRCh38)
                                    12:114184758 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113746952:T:C
                                    Gene:
                                    LINC01234 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489776220 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:113745941 (GRCh38)
                                      12:114183746 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113745940:C:T
                                      Gene:
                                      LINC01234 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489686434 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        12:113754189 (GRCh38)
                                        12:114191994 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113754188:GGGGG:GGGG
                                        Gene:
                                        LINC01234 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GGGG=0./0 (ALFA)
                                        -=0.00022/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489530068 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:113750186 (GRCh38)
                                          12:114187991 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113750185:C:G
                                          Gene:
                                          LINC01234 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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