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Items: 1 to 20 of 803

1.

rs1491101260 has merged into rs71335051 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT [Show Flanks]
    Chromosome:
    21:28540425 (GRCh38)
    21:29912747 (GRCh37)
    Canonical SPDI:
    NC_000021.9:28540411:TATATATATATATATAT:TATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000021.9:28540411:TATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT
    Gene:
    LINC00161 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATATATATATATATATATAT=0./0 (ALFA)
    TA=0.1121/24 (Vietnamese)
    HGVS:
    NC_000021.9:g.28540413AT[6], NC_000021.9:g.28540413AT[7], NC_000021.9:g.28540413AT[9], NC_000021.9:g.28540413AT[10], NC_000021.9:g.28540413AT[11], NC_000021.9:g.28540413AT[12], NC_000021.9:g.28540413AT[13], NC_000021.9:g.28540413AT[14], NC_000021.9:g.28540413AT[15], NC_000021.9:g.28540413AT[16], NC_000021.9:g.28540413AT[17], NC_000021.9:g.28540413AT[18], NC_000021.9:g.28540413AT[19], NC_000021.9:g.28540413AT[20], NC_000021.8:g.29912735AT[6], NC_000021.8:g.29912735AT[7], NC_000021.8:g.29912735AT[9], NC_000021.8:g.29912735AT[10], NC_000021.8:g.29912735AT[11], NC_000021.8:g.29912735AT[12], NC_000021.8:g.29912735AT[13], NC_000021.8:g.29912735AT[14], NC_000021.8:g.29912735AT[15], NC_000021.8:g.29912735AT[16], NC_000021.8:g.29912735AT[17], NC_000021.8:g.29912735AT[18], NC_000021.8:g.29912735AT[19], NC_000021.8:g.29912735AT[20]
    2.

    rs1490966645 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      21:28538477 (GRCh38)
      21:29910799 (GRCh37)
      Canonical SPDI:
      NC_000021.9:28538476:T:C
      Gene:
      LINC00161 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490958120 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        21:28539464 (GRCh38)
        21:29911786 (GRCh37)
        Canonical SPDI:
        NC_000021.9:28539463:G:C
        Gene:
        LINC00161 (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=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490125709 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          21:28540305 (GRCh38)
          21:29912627 (GRCh37)
          Canonical SPDI:
          NC_000021.9:28540304:T:A,NC_000021.9:28540304:T:C
          Gene:
          LINC00161 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489973119 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            21:28540427 (GRCh38)
            21:29912749 (GRCh37)
            Canonical SPDI:
            NC_000021.9:28540426:A:G
            Gene:
            LINC00161 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1488738691 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:28540071 (GRCh38)
              21:29912393 (GRCh37)
              Canonical SPDI:
              NC_000021.9:28540070:C:T
              Gene:
              LINC00161 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488558203 has merged into rs11404359 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
                Chromosome:
                21:28538132 (GRCh38)
                21:29910454 (GRCh37)
                Canonical SPDI:
                NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:28538123:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                Gene:
                LINC00161 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                T=0.04348/26 (NorthernSweden)
                T=0.225/9 (GENOME_DK)
                HGVS:
                8.

                rs1488505739 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  21:28538870 (GRCh38)
                  21:29911192 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:28538869:A:C
                  Gene:
                  LINC00161 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  HGVS:
                  9.

                  rs1488088191 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:28538152 (GRCh38)
                    21:29910474 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:28538151:C:T
                    Gene:
                    LINC00161 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    HGVS:
                    10.

                    rs1486592770 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      21:28538799 (GRCh38)
                      21:29911121 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:28538798:A:C
                      Gene:
                      LINC00161 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484197665 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        21:28540522 (GRCh38)
                        21:29912844 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:28540521:T:C
                        Gene:
                        LINC00161 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1483666274 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:28538268 (GRCh38)
                          21:29910590 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:28538267:C:T
                          Gene:
                          LINC00161 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482974845 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            21:28538404 (GRCh38)
                            21:29910726 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:28538403:A:T
                            Gene:
                            LINC00161 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482092591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              21:28537789 (GRCh38)
                              21:29910111 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:28537788:T:C
                              Gene:
                              LINC00161 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1481955657 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                21:28538279 (GRCh38)
                                21:29910601 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:28538278:G:A,NC_000021.9:28538278:G:C
                                Gene:
                                LINC00161 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000023/6 (TOPMED)
                                HGVS:
                                16.

                                rs1481704937 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  21:28539050 (GRCh38)
                                  21:29911372 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:28539049:T:C
                                  Gene:
                                  LINC00161 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481495597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    21:28538565 (GRCh38)
                                    21:29910887 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:28538564:T:A,NC_000021.9:28538564:T:C
                                    Gene:
                                    LINC00161 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    C=0.000283/5 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1479754001 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      21:28540528 (GRCh38)
                                      21:29912850 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:28540527:A:C
                                      Gene:
                                      LINC00161 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000084/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479239253 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        21:28540648 (GRCh38)
                                        21:29912970 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:28540647:G:T
                                        Gene:
                                        LINC00161 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477065249 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          21:28538463 (GRCh38)
                                          21:29910785 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:28538462:A:T
                                          Gene:
                                          LINC00161 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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