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Links from Nucleotide

Items: 17

1.

rs1484585907 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:91351199 (GRCh38)
    13:92003453 (GRCh37)
    Canonical SPDI:
    NC_000013.11:91351198:C:T
    Gene:
    MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
    Functional Consequence:
    intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1435060366 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      13:91351231 (GRCh38)
      13:92003485 (GRCh37)
      Canonical SPDI:
      NC_000013.11:91351230:G:A,NC_000013.11:91351230:G:T
      Gene:
      MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
      Functional Consequence:
      500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1330845252 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        13:91351221 (GRCh38)
        13:92003475 (GRCh37)
        Canonical SPDI:
        NC_000013.11:91351220:G:A
        Gene:
        MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1300756441 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          13:91351233 (GRCh38)
          13:92003487 (GRCh37)
          Canonical SPDI:
          NC_000013.11:91351232:G:T
          Gene:
          MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
          Functional Consequence:
          non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000008/2 (GnomAD_exomes)
          T=0.000212/4 (TOMMO)
          T=0.001092/2 (Korea1K)
          T=0.001369/4 (KOREAN)
          HGVS:
          5.

          rs1279688822 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            13:91351213 (GRCh38)
            13:92003467 (GRCh37)
            Canonical SPDI:
            NC_000013.11:91351212:G:T
            Gene:
            MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
            Functional Consequence:
            500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1259633726 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              13:91351212 (GRCh38)
              13:92003466 (GRCh37)
              Canonical SPDI:
              NC_000013.11:91351211:T:G
              Gene:
              MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1241055611 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:91351202 (GRCh38)
                13:92003456 (GRCh37)
                Canonical SPDI:
                NC_000013.11:91351201:T:C
                Gene:
                MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.0002/1 (ALFA)
                C=0.0002/1 (Estonian)
                HGVS:
                8.

                rs776965935 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  13:91351236 (GRCh38)
                  13:92003490 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:91351235:A:T
                  Gene:
                  MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000015/4 (TOPMED)
                  T=0.00002/5 (GnomAD_exomes)
                  T=0.000033/4 (ExAC)
                  HGVS:
                  9.

                  rs771220050 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:91351229 (GRCh38)
                    13:92003483 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:91351228:C:T
                    Gene:
                    MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000008/1 (ExAC)
                    T=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs765344673 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      13:91351241 (GRCh38)
                      13:92003495 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:91351240:C:T
                      Gene:
                      MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000057/15 (TOPMED)
                      T=0.000058/7 (ExAC)
                      T=0.000096/24 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs761184964 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        13:91351203 (GRCh38)
                        13:92003457 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:91351202:G:A
                        Gene:
                        MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                        Functional Consequence:
                        500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/1 (ExAC)
                        HGVS:
                        12.

                        rs759942548 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:91351239 (GRCh38)
                          13:92003493 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:91351238:T:C
                          Gene:
                          MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                          Functional Consequence:
                          500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00018/8 (ALFA)
                          C=0.000057/8 (GnomAD)
                          C=0.000064/17 (TOPMED)
                          C=0.000074/9 (ExAC)
                          C=0.000076/19 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs752994578 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:91351256 (GRCh38)
                            13:92003510 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:91351255:A:G
                            Gene:
                            MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                            Functional Consequence:
                            500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/1 (ExAC)
                            HGVS:
                            14.

                            rs750642161 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TG>- [Show Flanks]
                              Chromosome:
                              13:91351271 (GRCh38)
                              13:92003525 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:91351268:TGTG:TG
                              Gene:
                              MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                              Functional Consequence:
                              500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TGTG=0./0 (ALFA)
                              -=0.000008/1 (ExAC)
                              -=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs377632383 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:91351258 (GRCh38)
                                13:92003512 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:91351257:G:A
                                Gene:
                                MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000097/1 (GoESP)
                                HGVS:
                                16.

                                rs376270162 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  13:91351197 (GRCh38)
                                  13:92003451 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:91351196:T:A
                                  Gene:
                                  MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                                  HGVS:
                                  17.

                                  rs374218049 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:91351201 (GRCh38)
                                    13:92003455 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:91351200:A:G
                                    Gene:
                                    MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000008/1 (ExAC)
                                    G=0.000097/1 (GoESP)
                                    G=0.001002/1 (GoNL)
                                    HGVS:

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