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Items: 1 to 20 of 6309

1.

rs1490896444 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    14:27618851 (GRCh38)
    14:28088057 (GRCh37)
    Canonical SPDI:
    NC_000014.9:27618850:A:T
    Gene:
    MIR3171HG (Varview), LINC00645 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    T=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1490837314 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      14:27634647 (GRCh38)
      14:28103853 (GRCh37)
      Canonical SPDI:
      NC_000014.9:27634646:G:A,NC_000014.9:27634646:G:C
      Gene:
      MIR3171HG (Varview), MIR3171 (Varview), LINC00645 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490612612 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        14:27626832 (GRCh38)
        14:28096038 (GRCh37)
        Canonical SPDI:
        NC_000014.9:27626831:G:A,NC_000014.9:27626831:G:T
        Gene:
        MIR3171HG (Varview), LINC00645 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        T=0.000008/2 (TOPMED)
        T=0.000156/1 (1000Genomes)
        HGVS:
        4.

        rs1490352916 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TAA>- [Show Flanks]
          Chromosome:
          14:27621248 (GRCh38)
          14:28090454 (GRCh37)
          Canonical SPDI:
          NC_000014.9:27621245:AATAA:AA
          Gene:
          MIR3171HG (Varview), LINC00645 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0./0 (ALFA)
          -=0.000026/7 (TOPMED)
          HGVS:
          5.

          rs1490327583 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            14:27618808 (GRCh38)
            14:28088014 (GRCh37)
            Canonical SPDI:
            NC_000014.9:27618807:C:A,NC_000014.9:27618807:C:T
            Gene:
            MIR3171HG (Varview), LINC00645 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490137738 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:27639293 (GRCh38)
              14:28108499 (GRCh37)
              Canonical SPDI:
              NC_000014.9:27639292:G:A
              Gene:
              MIR3171HG (Varview), LINC00645 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490092827 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                14:27636741 (GRCh38)
                14:28105947 (GRCh37)
                Canonical SPDI:
                NC_000014.9:27636740:A:C
                Gene:
                MIR3171HG (Varview), LINC00645 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489835729 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  A>-
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1489810396 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    14:27617634 (GRCh38)
                    14:28086840 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:27617633:G:T
                    Gene:
                    MIR3171HG (Varview), LINC00645 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489760862 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      14:27617055 (GRCh38)
                      14:28086261 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:27617054:C:A
                      Gene:
                      MIR3171HG (Varview), LINC00645 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000023/6 (TOPMED)
                      HGVS:
                      11.

                      rs1489597158 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:27625450 (GRCh38)
                        14:28094656 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:27625449:C:T
                        Gene:
                        MIR3171HG (Varview), LINC00645 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1489573617 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:27611725 (GRCh38)
                          14:28080931 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:27611724:G:A
                          Gene:
                          MIR3171HG (Varview), LINC00645 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489509250 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            14:27624674 (GRCh38)
                            14:28093880 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:27624673:C:A
                            Gene:
                            MIR3171HG (Varview), LINC00645 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1489360824 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              14:27636553 (GRCh38)
                              14:28105759 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:27636552:T:C,NC_000014.9:27636552:T:G
                              Gene:
                              MIR3171HG (Varview), LINC00645 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489305853 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:27617386 (GRCh38)
                                14:28086592 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:27617385:G:A
                                Gene:
                                MIR3171HG (Varview), LINC00645 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489273824 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:27627310 (GRCh38)
                                  14:28096516 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:27627309:G:A
                                  Gene:
                                  MIR3171HG (Varview), LINC00645 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489255043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    14:27614797 (GRCh38)
                                    14:28084003 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:27614796:C:G
                                    Gene:
                                    MIR3171HG (Varview), LINC00645 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488639827 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:27625723 (GRCh38)
                                      14:28094929 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:27625722:T:C
                                      Gene:
                                      MIR3171HG (Varview), LINC00645 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488382339 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        14:27637086 (GRCh38)
                                        14:28106292 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:27637085:G:C,NC_000014.9:27637085:G:T
                                        Gene:
                                        MIR3171HG (Varview), LINC00645 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487692756 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:27620432 (GRCh38)
                                          14:28089638 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:27620431:A:G
                                          Gene:
                                          MIR3171HG (Varview), LINC00645 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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