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Items: 1 to 20 of 1627

1.

rs1490702604 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:41554873 (GRCh38)
    17:39711125 (GRCh37)
    Canonical SPDI:
    NC_000017.11:41554872:C:T
    Gene:
    LINC00974 (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:
    2.

    rs1490666740 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      17:41553928 (GRCh38)
      17:39710180 (GRCh37)
      Canonical SPDI:
      NC_000017.11:41553927:G:C
      Gene:
      LINC00974 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000142/2 (TOMMO)
      HGVS:
      3.

      rs1490178340 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTCGGGTGAG>- [Show Flanks]
        Chromosome:
        17:41553422 (GRCh38)
        17:39709674 (GRCh37)
        Canonical SPDI:
        NC_000017.11:41553417:TGAGTTCGGGTGAG:TGAG
        Gene:
        LINC00974 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TGAG=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489406355 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          17:41550760 (GRCh38)
          17:39707012 (GRCh37)
          Canonical SPDI:
          NC_000017.11:41550759:A:T
          Gene:
          LINC00974 (Varview)
          Functional Consequence:
          non_coding_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:
          5.

          rs1489312402 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:41553090 (GRCh38)
            17:39709342 (GRCh37)
            Canonical SPDI:
            NC_000017.11:41553089:C:T
            Gene:
            LINC00974 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489056467 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              17:41549375 (GRCh38)
              17:39705627 (GRCh37)
              Canonical SPDI:
              NC_000017.11:41549374:T:G
              Gene:
              LINC00974 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000022/3 (GnomAD)
              HGVS:
              7.

              rs1489002282 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:41552825 (GRCh38)
                17:39709077 (GRCh37)
                Canonical SPDI:
                NC_000017.11:41552824:C:T
                Gene:
                LINC00974 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488035217 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  17:41550521 (GRCh38)
                  17:39706773 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:41550520:C:G
                  Gene:
                  LINC00974 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000224/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1487400398 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:41556133 (GRCh38)
                    17:39712385 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:41556132:G:A
                    Gene:
                    LINC00974 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_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:
                    10.

                    rs1487328477 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:41554912 (GRCh38)
                      17:39711164 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:41554911:A:G
                      Gene:
                      LINC00974 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1487049552 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        17:41552043 (GRCh38)
                        17:39708295 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:41552042:T:C,NC_000017.11:41552042:T:G
                        Gene:
                        LINC00974 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1486698554 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:41554990 (GRCh38)
                          17:39711242 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:41554989:G:A
                          Gene:
                          LINC00974 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1486581678 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:41551600 (GRCh38)
                            17:39707852 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:41551599:G:A
                            Gene:
                            LINC00974 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.000045/12 (TOPMED)
                            HGVS:
                            14.

                            rs1486561373 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              17:41550780 (GRCh38)
                              17:39707032 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:41550779:G:T
                              Gene:
                              LINC00974 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485303805 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:41555206 (GRCh38)
                                17:39711458 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:41555205:G:A
                                Gene:
                                LINC00974 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_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:
                                16.

                                rs1483990180 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  17:41549768 (GRCh38)
                                  17:39706020 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:41549767:C:G,NC_000017.11:41549767:C:T
                                  Gene:
                                  LINC00974 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483117546 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    17:41556006 (GRCh38)
                                    17:39712258 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:41556005:T:A
                                    Gene:
                                    LINC00974 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_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:
                                    18.

                                    rs1482212428 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:41550787 (GRCh38)
                                      17:39707039 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:41550786:A:G
                                      Gene:
                                      LINC00974 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482132700 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        17:41555433 (GRCh38)
                                        17:39711685 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:41555432:G:T
                                        Gene:
                                        LINC00974 (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:
                                        20.

                                        rs1481073675 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:41554969 (GRCh38)
                                          17:39711221 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:41554968:T:C
                                          Gene:
                                          LINC00974 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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