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Links from Gene

Items: 1 to 20 of 716

1.

rs1490237953 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GCAT>- [Show Flanks]
    Chromosome:
    19:53710924 (GRCh38)
    19:54214178 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53710921:ATGCAT:AT
    Gene:
    MIR524 (Varview), MIR517A (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AT=0.000071/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489729252 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GA [Show Flanks]
      Chromosome:
      19:53711479 (GRCh38)
      19:54214734 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53711479:A:AGA
      Gene:
      MIR524 (Varview), MIR517A (Varview), MIR519D (Varview)
      Functional Consequence:
      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGA=0.000071/1 (ALFA)
      AG=0.000011/3 (TOPMED)
      AG=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1489432881 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:53709507 (GRCh38)
        19:54212761 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53709506:C:T
        Gene:
        MIR524 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1484128868 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          19:53710415 (GRCh38)
          19:54213669 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53710414:T:A
          Gene:
          MIR524 (Varview), MIR517A (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:
          5.

          rs1482919022 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:53710711 (GRCh38)
            19:54213965 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53710710:T:C
            Gene:
            MIR524 (Varview), MIR517A (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1482766972 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:53709938 (GRCh38)
              19:54213192 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53709937:C:G
              Gene:
              MIR524 (Varview)
              Functional Consequence:
              2KB_upstream_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.

              rs1482492173 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                19:53709589 (GRCh38)
                19:54212843 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53709588:T:G
                Gene:
                MIR524 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1482014852 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:53709407 (GRCh38)
                  19:54212661 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53709406:G:A
                  Gene:
                  MIR524 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000447/2 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000446/2 (Estonian)
                  HGVS:
                  9.

                  rs1481949818 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:53710543 (GRCh38)
                    19:54213797 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53710542:T:C
                    Gene:
                    MIR524 (Varview), MIR517A (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=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1481234001 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:53709728 (GRCh38)
                      19:54212982 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53709727:G:A
                      Gene:
                      MIR524 (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:
                      11.

                      rs1480651855 has merged into rs1031933940 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        T>-,TT [Show Flanks]
                        Chromosome:
                        19:53710532 (GRCh38)
                        19:54213786 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53710531:TTTTTTTT:TTTTTTT,NC_000019.10:53710531:TTTTTTTT:TTTTTTTTT
                        Gene:
                        MIR524 (Varview), MIR517A (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTT=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1480004059 has merged into rs199889445 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTCT>-,CT [Show Flanks]
                          Chromosome:
                          19:53711289 (GRCh38)
                          19:54214543 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53711285:TCTCTCT:TCT,NC_000019.10:53711285:TCTCTCT:TCTCT
                          Gene:
                          MIR524 (Varview), MIR517A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TCTCT=0.00397/72 (ALFA)
                          -=0.00578/29 (1000Genomes)
                          -=0.00667/4 (NorthernSweden)
                          -=0.01629/73 (Estonian)
                          -=0.01672/62 (TWINSUK)
                          -=0.01946/75 (ALSPAC)
                          -=0.02806/28 (GoNL)
                          HGVS:
                          13.

                          rs1477021128 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:53709360 (GRCh38)
                            19:54212614 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53709359:T:C
                            Gene:
                            MIR524 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1476570537 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              19:53709158 (GRCh38)
                              19:54212412 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53709157:G:A,NC_000019.10:53709157:G:C,NC_000019.10:53709157:G:T
                              Gene:
                              MIR518C (Varview), MIR524 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00011/2 (TOMMO)
                              HGVS:
                              15.

                              rs1476459936 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:53711104 (GRCh38)
                                19:54214358 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53711103:T:C
                                Gene:
                                MIR524 (Varview), MIR517A (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                HGVS:
                                16.

                                rs1473222003 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:53709977 (GRCh38)
                                  19:54213231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53709976:A:G
                                  Gene:
                                  MIR524 (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:
                                  17.

                                  rs1473121032 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:53709437 (GRCh38)
                                    19:54212691 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53709436:A:G
                                    Gene:
                                    MIR524 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1471218993 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:53709447 (GRCh38)
                                      19:54212701 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53709446:C:T
                                      Gene:
                                      MIR524 (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=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1470630138 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        19:53710693 (GRCh38)
                                        19:54213947 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53710692:C:A,NC_000019.10:53710692:C:T
                                        Gene:
                                        MIR524 (Varview), MIR517A (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=0.000318/5 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1467702942 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          19:53711160 (GRCh38)
                                          19:54214414 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53711159:A:T
                                          Gene:
                                          MIR524 (Varview), MIR517A (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          T=0.000637/11 (TOMMO)
                                          HGVS:

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