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Links from Gene

Items: 1 to 20 of 805

1.

rs1490912535 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:53716637 (GRCh38)
    19:54219891 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53716636:A:G
    Gene:
    MIR521-2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489743764 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:53717029 (GRCh38)
      19:54220283 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53717028:T:C
      Gene:
      MIR521-2 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1488023493 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        19:53715268 (GRCh38)
        19:54218522 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53715267:A:G
        Gene:
        MIR521-2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487933922 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:53716315 (GRCh38)
          19:54219569 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53716314:C:T
          Gene:
          MIR521-2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000342/1 (KOREAN)
          HGVS:
          5.

          rs1487735706 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            19:53716575 (GRCh38)
            19:54219829 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53716574:G:C
            Gene:
            MIR521-2 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1487680403 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:53715588 (GRCh38)
              19:54218842 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53715587:G:A
              Gene:
              MIR521-2 (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:
              7.

              rs1487616380 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:53714800 (GRCh38)
                19:54218054 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53714799:A:G
                Gene:
                MIR521-2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1487608824 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  19:53715718 (GRCh38)
                  19:54218972 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53715717:A:T
                  Gene:
                  MIR521-2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.00012/2 (ALFA)
                  HGVS:
                  9.

                  rs1485383289 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    19:53714973 (GRCh38)
                    19:54218227 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53714972:C:G,NC_000019.10:53714972:C:T
                    Gene:
                    MIR521-2 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1483433006 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CTCTCCAAAGGGAAGA>- [Show Flanks]
                      Chromosome:
                      19:53716607 (GRCh38)
                      19:54219861 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53716604:GACTCTCCAAAGGGAAGA:GA
                      Gene:
                      MIR521-2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GA=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1480694450 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:53715920 (GRCh38)
                        19:54219174 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53715919:C:T
                        Gene:
                        MIR521-2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        T=0.000546/1 (Korea1K)
                        HGVS:
                        12.

                        rs1479721190 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          19:53716303 (GRCh38)
                          19:54219557 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53716302:A:G,NC_000019.10:53716302:A:T
                          Gene:
                          MIR521-2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1479640587 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:53716519 (GRCh38)
                            19:54219773 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53716518:A:G
                            Gene:
                            MIR521-2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1478649701 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              19:53716735 (GRCh38)
                              19:54219989 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53716734:A:T
                              Gene:
                              MIR521-2 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000057/15 (TOPMED)
                              T=0.000064/9 (GnomAD)
                              HGVS:
                              15.

                              rs1477437750 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,T [Show Flanks]
                                Chromosome:
                                19:53716151 (GRCh38)
                                19:54219405 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53716150:A:C,NC_000019.10:53716150:A:T
                                Gene:
                                MIR521-2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1476686057 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  GTT>-
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1475480524 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    19:53715013 (GRCh38)
                                    19:54218267 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53715012:T:A
                                    Gene:
                                    MIR521-2 (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:
                                    18.

                                    rs1474471051 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      19:53716018 (GRCh38)
                                      19:54219272 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53716017:T:C,NC_000019.10:53716017:T:G
                                      Gene:
                                      MIR521-2 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1474152171 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        19:53714884 (GRCh38)
                                        19:54218138 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53714883:C:G,NC_000019.10:53714883:C:T
                                        Gene:
                                        MIR521-2 (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:
                                        20.

                                        rs1473190458 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GAA>- [Show Flanks]
                                          Chromosome:
                                          19:53716646 (GRCh38)
                                          19:54219900 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53716643:AAGAA:AA
                                          Gene:
                                          MIR521-2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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