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Items: 1 to 20 of 2484

1.

rs1490738177 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    1:111991071 (GRCh38)
    1:112533693 (GRCh37)
    Canonical SPDI:
    NC_000001.11:111991070:G:C,NC_000001.11:111991070:G:T
    Gene:
    KCND3 (Varview), LINC01750 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000142/2 (ALFA)
    T=0.000029/4 (GnomAD)
    T=0.000052/7 (GnomAD_exomes)
    HGVS:
    2.

    rs1490729687 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:111996580 (GRCh38)
      1:112539202 (GRCh37)
      Canonical SPDI:
      NC_000001.11:111996579:A:G
      Gene:
      LINC01750 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490492317 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:111998053 (GRCh38)
        1:112540675 (GRCh37)
        Canonical SPDI:
        NC_000001.11:111998052:C:T
        Gene:
        LINC01750 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        HGVS:
        4.

        rs1490310524 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:111989588 (GRCh38)
          1:112532210 (GRCh37)
          Canonical SPDI:
          NC_000001.11:111989587:G:A
          Gene:
          KCND3 (Varview), LINC01750 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000015/2 (GnomAD)
          HGVS:
          5.

          rs1489997957 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:111999100 (GRCh38)
            1:112541722 (GRCh37)
            Canonical SPDI:
            NC_000001.11:111999099:G:A
            Gene:
            LINC01750 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489139218 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:111990487 (GRCh38)
              1:112533109 (GRCh37)
              Canonical SPDI:
              NC_000001.11:111990486:G:A
              Gene:
              KCND3 (Varview), LINC01750 (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)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489050348 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:111994713 (GRCh38)
                1:112537335 (GRCh37)
                Canonical SPDI:
                NC_000001.11:111994712:C:G
                Gene:
                LINC01750 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1487755886 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  1:111991197 (GRCh38)
                  1:112533819 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:111991196:G:A,NC_000001.11:111991196:G:C
                  Gene:
                  KCND3 (Varview), LINC01750 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1487236600 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    1:111990357 (GRCh38)
                    1:112532979 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:111990356:G:T
                    Gene:
                    KCND3 (Varview), LINC01750 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1487067823 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ATTTA>- [Show Flanks]
                      Chromosome:
                      1:111996115 (GRCh38)
                      1:112538737 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:111996110:TTTAATTTA:TTTA
                      Gene:
                      LINC01750 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTA=0.000142/2 (ALFA)
                      -=0.000042/11 (TOPMED)
                      -=0.000043/6 (GnomAD)
                      HGVS:
                      11.

                      rs1486973972 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        1:111989908 (GRCh38)
                        1:112532530 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:111989907:C:A,NC_000001.11:111989907:C:G
                        Gene:
                        KCND3 (Varview), LINC01750 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1486755407 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:111992644 (GRCh38)
                          1:112535266 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:111992643:G:A
                          Gene:
                          LINC01750 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1486421970 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:111991762 (GRCh38)
                            1:112534384 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:111991761:C:G
                            Gene:
                            LINC01750 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            G=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1485897252 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:111989578 (GRCh38)
                              1:112532200 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:111989577:C:A
                              Gene:
                              KCND3 (Varview), LINC01750 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1485220641 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:111992166 (GRCh38)
                                1:112534788 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:111992165:C:G
                                Gene:
                                LINC01750 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1485119828 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:111993113 (GRCh38)
                                  1:112535735 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:111993112:G:A
                                  Gene:
                                  LINC01750 (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:
                                  17.

                                  rs1485083609 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:111988149 (GRCh38)
                                    1:112530771 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:111988148:C:T
                                    Gene:
                                    KCND3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000021/3 (GnomAD)
                                    T=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484793681 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:111993729 (GRCh38)
                                      1:112536351 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:111993728:C:G
                                      Gene:
                                      LINC01750 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484694868 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:111993273 (GRCh38)
                                        1:112535895 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:111993272:T:C
                                        Gene:
                                        LINC01750 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000038/10 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484456061 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:111989087 (GRCh38)
                                          1:112531709 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:111989086:C:T
                                          Gene:
                                          KCND3 (Varview), LINC01750 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000142/2 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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