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Items: 1 to 20 of 1431

1.

rs1490594650 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    17:189249 (GRCh38)
    17:39040 (GRCh37)
    Canonical SPDI:
    NC_000017.11:189248:G:T
    Gene:
    LINC02091 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488799727 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:184364 (GRCh38)
      17:34155 (GRCh37)
      Canonical SPDI:
      NC_000017.11:184363:G:A
      Gene:
      LINC02091 (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:
      3.

      rs1488481531 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:185545 (GRCh38)
        17:35336 (GRCh37)
        Canonical SPDI:
        NC_000017.11:185544:A:G
        Gene:
        LINC02091 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488122551 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:187974 (GRCh38)
          17:37765 (GRCh37)
          Canonical SPDI:
          NC_000017.11:187973:C:T
          Gene:
          LINC02091 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488011192 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            17:188797 (GRCh38)
            17:38588 (GRCh37)
            Canonical SPDI:
            NC_000017.11:188796:G:A,NC_000017.11:188796:G:T
            Gene:
            LINC02091 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1487818411 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              17:184690 (GRCh38)
              17:34481 (GRCh37)
              Canonical SPDI:
              NC_000017.11:184689:C:G
              Gene:
              LINC02091 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486112829 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:184993 (GRCh38)
                17:34784 (GRCh37)
                Canonical SPDI:
                NC_000017.11:184992:G:A
                Gene:
                LINC02091 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000214/3 (ALFA)
                A=0.000029/4 (GnomAD)
                A=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1485904260 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:186459 (GRCh38)
                  17:36250 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:186458:G:A
                  Gene:
                  LINC02091 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1485075390 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:183330 (GRCh38)
                    17:33121 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:183329:G:A
                    Gene:
                    DOC2B (Varview), LINC02091 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.00013/2 (ALFA)
                    HGVS:
                    10.

                    rs1484992581 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      17:186023 (GRCh38)
                      17:35814 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:186022:CC:C
                      Gene:
                      LINC02091 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484922125 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:186845 (GRCh38)
                        17:36636 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:186844:G:A
                        Gene:
                        LINC02091 (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:
                        12.

                        rs1484357870 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          17:186909 (GRCh38)
                          17:36700 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:186908:T:A
                          Gene:
                          LINC02091 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1483835388 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            17:188002 (GRCh38)
                            17:37793 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:188001:T:G
                            Gene:
                            LINC02091 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1483265933 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:188052 (GRCh38)
                              17:37843 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:188051:G:A
                              Gene:
                              LINC02091 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1483104318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                17:185876 (GRCh38)
                                17:35667 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:185875:A:C
                                Gene:
                                LINC02091 (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1482954576 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  17:187692 (GRCh38)
                                  17:37483 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:187691:A:T
                                  Gene:
                                  LINC02091 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482902414 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    17:186624 (GRCh38)
                                    17:36415 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:186623:A:C,NC_000017.11:186623:A:G
                                    Gene:
                                    LINC02091 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482852456 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      17:188353 (GRCh38)
                                      17:38144 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:188352:G:C,NC_000017.11:188352:G:T
                                      Gene:
                                      LINC02091 (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=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482744956 has merged into rs768488798 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CCT>-,CCTCCT [Show Flanks]
                                        Chromosome:
                                        17:185793 (GRCh38)
                                        17:35584 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:185787:CTCCTCCT:CTCCT,NC_000017.11:185787:CTCCTCCT:CTCCTCCTCCT
                                        Gene:
                                        LINC02091 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTCCT=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482619963 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:184217 (GRCh38)
                                          17:34008 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:184216:A:G
                                          Gene:
                                          LINC02091 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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