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Links from Nucleotide

Items: 1 to 20 of 3740

1.

rs1491559255 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    13:91352424 (GRCh38)
    13:92004678 (GRCh37)
    Canonical SPDI:
    NC_000013.11:91352422:ATA:A
    Gene:
    MIR17HG (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1491237023 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      13:91353109 (GRCh38)
      13:92005363 (GRCh37)
      Canonical SPDI:
      NC_000013.11:91353108:CA:
      Gene:
      MIR17HG (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490920207 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGC>- [Show Flanks]
        Chromosome:
        13:91349080 (GRCh38)
        13:92001334 (GRCh37)
        Canonical SPDI:
        NC_000013.11:91349076:GGCGGC:GGC
        Gene:
        MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR20A (Varview), MIR17HG (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        GGCGGC=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490881983 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          13:91356355 (GRCh38)
          13:92008609 (GRCh37)
          Canonical SPDI:
          NC_000013.11:91356354:T:A
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490868236 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            13:91355517 (GRCh38)
            13:92007771 (GRCh37)
            Canonical SPDI:
            NC_000013.11:91355516:T:G
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490858886 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:91344150 (GRCh38)
              13:91996404 (GRCh37)
              Canonical SPDI:
              NC_000013.11:91344149:A:G
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1490370533 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                13:91344618 (GRCh38)
                13:91996872 (GRCh37)
                Canonical SPDI:
                NC_000013.11:91344617:AA:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490156229 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C,G [Show Flanks]
                  Chromosome:
                  13:91350050 (GRCh38)
                  13:92002304 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:91350049:T:A,NC_000013.11:91350049:T:C,NC_000013.11:91350049:T:G
                  Gene:
                  MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489885100 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    13:91346236 (GRCh38)
                    13:91998490 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:91346235:T:C
                    Gene:
                    MIR17HG (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489759386 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      13:91348599 (GRCh38)
                      13:92000853 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:91348598:G:A,NC_000013.11:91348598:G:T
                      Gene:
                      MIR17HG (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489565167 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:91346307 (GRCh38)
                        13:91998561 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:91346306:C:T
                        Gene:
                        MIR17HG (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:
                        12.

                        rs1489405832 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:91348435 (GRCh38)
                          13:92000689 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:91348434:G:A
                          Gene:
                          MIR17HG (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489028569 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:91347125 (GRCh38)
                            13:91999379 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:91347124:G:A
                            Gene:
                            MIR17HG (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1488978315 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              13:91348485 (GRCh38)
                              13:92000739 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:91348484:G:T
                              Gene:
                              MIR17HG (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              T=0.000022/3 (GnomAD)
                              HGVS:
                              15.

                              rs1488704758 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                13:91355584 (GRCh38)
                                13:92007838 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:91355583:T:G
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488618107 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:91343246 (GRCh38)
                                  13:91995500 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:91343245:T:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488433061 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:91348630 (GRCh38)
                                    13:92000884 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:91348629:C:T
                                    Gene:
                                    MIR17 (Varview), MIR17HG (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488302167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      13:91353841 (GRCh38)
                                      13:92006095 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:91353840:A:C
                                      Gene:
                                      MIR17HG (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488210205 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:91354472 (GRCh38)
                                        13:92006726 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:91354471:C:T
                                        Gene:
                                        MIR17HG (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        HGVS:
                                        20.

                                        rs1488198196 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          13:91349053 (GRCh38)
                                          13:92001307 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:91349052:C:A,NC_000013.11:91349052:C:T
                                          Gene:
                                          MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR17HG (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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