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Items: 1 to 20 of 1000

1.

rs1490820485 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    21:45289920 (GRCh38)
    21:46709835 (GRCh37)
    Canonical SPDI:
    NC_000021.9:45289919:A:C
    Gene:
    LINC00205 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1490738935 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:45292768 (GRCh38)
      21:46712683 (GRCh37)
      Canonical SPDI:
      NC_000021.9:45292767:G:A
      Gene:
      LINC00205 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1490683249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        21:45288079 (GRCh38)
        21:46707994 (GRCh37)
        Canonical SPDI:
        NC_000021.9:45288078:T:A
        Gene:
        POFUT2 (Varview), LINC00205 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000224/1 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000223/1 (Estonian)
        HGVS:
        4.

        rs1490446022 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          21:45286947 (GRCh38)
          21:46706862 (GRCh37)
          Canonical SPDI:
          NC_000021.9:45286946:C:G
          Gene:
          POFUT2 (Varview), LINC00205 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000014/2 (GnomAD)
          G=0.00006/16 (TOPMED)
          HGVS:
          5.

          rs1490394135 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            21:45286070 (GRCh38)
            21:46705985 (GRCh37)
            Canonical SPDI:
            NC_000021.9:45286069:G:C
            Gene:
            POFUT2 (Varview), LINC00205 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490333655 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              21:45288914 (GRCh38)
              21:46708829 (GRCh37)
              Canonical SPDI:
              NC_000021.9:45288913:A:G
              Gene:
              POFUT2 (Varview), LINC00205 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000029/4 (GnomAD)
              G=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1490242046 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                21:45287666 (GRCh38)
                21:46707581 (GRCh37)
                Canonical SPDI:
                NC_000021.9:45287665:G:C
                Gene:
                POFUT2 (Varview), LINC00205 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.08894/1055 (ALFA)
                C=0.00921/149 (TOMMO)
                C=0.15959/451 (KOREAN)
                G=0.5/2 (SGDP_PRJ)
                HGVS:
                8.

                rs1490191505 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  21:45291799 (GRCh38)
                  21:46711714 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:45291798:C:G
                  Gene:
                  LINC00205 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489993745 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    21:45297617 (GRCh38)
                    21:46717532 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:45297616:G:T
                    Gene:
                    LINC00205 (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:
                    10.

                    rs1489963426 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:45296728 (GRCh38)
                      21:46716643 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:45296727:G:A
                      Gene:
                      LINC00205 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489658043 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        21:45290617 (GRCh38)
                        21:46710533 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:45290617:AAAAAA:AAAAAAA
                        Gene:
                        LINC00205 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAA=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000008/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489155459 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:45296231 (GRCh38)
                          21:46716146 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:45296230:C:T
                          Gene:
                          LINC00205 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488973796 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:45290592 (GRCh38)
                            21:46710507 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:45290591:G:A
                            Gene:
                            LINC00205 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000015/2 (GnomAD)
                            A=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1488742995 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              21:45287624 (GRCh38)
                              21:46707539 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:45287623:G:A
                              Gene:
                              POFUT2 (Varview), LINC00205 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488473198 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:45293968 (GRCh38)
                                21:46713883 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:45293967:G:A
                                Gene:
                                LINC00205 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488336821 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  21:45293168 (GRCh38)
                                  21:46713083 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:45293167:G:A
                                  Gene:
                                  LINC00205 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488177530 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    21:45295812 (GRCh38)
                                    21:46715727 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:45295811:G:A
                                    Gene:
                                    LINC00205 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000064/17 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488147313 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      21:45296814 (GRCh38)
                                      21:46716729 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:45296813:G:A
                                      Gene:
                                      LINC00205 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487616288 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        21:45289949 (GRCh38)
                                        21:46709864 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:45289948:C:A,NC_000021.9:45289948:C:G
                                        Gene:
                                        LINC00205 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487434992 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          21:45297005 (GRCh38)
                                          21:46716920 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:45297004:A:G
                                          Gene:
                                          LINC00205 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0./0 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000156/1 (1000Genomes)
                                          HGVS:

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