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Links from Gene

Items: 1 to 20 of 790

1.

rs1490192461 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    11:10509315 (GRCh38)
    11:10530862 (GRCh37)
    Canonical SPDI:
    NC_000011.10:10509314:T:G
    Gene:
    MIR4485 (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:
    2.

    rs1488961667 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:10510118 (GRCh38)
      11:10531665 (GRCh37)
      Canonical SPDI:
      NC_000011.10:10510117:C:T
      Gene:
      MIR4485 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      T=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1488838016 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        11:10510005 (GRCh38)
        11:10531552 (GRCh37)
        Canonical SPDI:
        NC_000011.10:10510004:G:A,NC_000011.10:10510004:G:C
        Gene:
        MIR4485 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        A=0.333333/8 (SGDP_PRJ)
        HGVS:
        4.

        rs1486578535 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:10509060 (GRCh38)
          11:10530607 (GRCh37)
          Canonical SPDI:
          NC_000011.10:10509059:A:G
          Gene:
          MIR4485 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000021/3 (GnomAD)
          G=0.000064/17 (TOPMED)
          HGVS:
          5.

          rs1486400076 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            11:10508223 (GRCh38)
            11:10529770 (GRCh37)
            Canonical SPDI:
            NC_000011.10:10508222:C:A
            Gene:
            MIR4485 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1485977279 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              11:10508191 (GRCh38)
              11:10529738 (GRCh37)
              Canonical SPDI:
              NC_000011.10:10508190:T:G
              Gene:
              MIR4485 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1485603144 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:10508290 (GRCh38)
                11:10529837 (GRCh37)
                Canonical SPDI:
                NC_000011.10:10508289:G:A
                Gene:
                MIR4485 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1484981137 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:10508560 (GRCh38)
                  11:10530107 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:10508559:A:G
                  Gene:
                  MIR4485 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484942354 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    11:10509374 (GRCh38)
                    11:10530921 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:10509373:C:A
                    Gene:
                    MIR4485 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    A=0.000312/2 (1000Genomes)
                    HGVS:
                    10.

                    rs1484151575 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:10509799 (GRCh38)
                      11:10531346 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:10509798:T:C
                      Gene:
                      MIR4485 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1482020979 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        11:10508233 (GRCh38)
                        11:10529780 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:10508232:A:T
                        Gene:
                        MIR4485 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1479273775 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          11:10508130 (GRCh38)
                          11:10529677 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:10508129:A:T
                          Gene:
                          MIR4485 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1478691646 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:10510219 (GRCh38)
                            11:10531766 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:10510218:G:A
                            Gene:
                            MIR4485 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1478524258 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:10509933 (GRCh38)
                              11:10531480 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:10509932:A:G
                              Gene:
                              MIR4485 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1478497455 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                11:10509348 (GRCh38)
                                11:10530896 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:10509348:AA:AAA
                                Gene:
                                MIR4485 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAA=0./0 (ALFA)
                                A=0.000023/6 (TOPMED)
                                A=0.000057/8 (GnomAD)
                                HGVS:
                                16.

                                rs1478214421 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:10509983 (GRCh38)
                                  11:10531530 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:10509982:A:G
                                  Gene:
                                  MIR4485 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000015/2 (GnomAD)
                                  G=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1478168065 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:10508936 (GRCh38)
                                    11:10530483 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:10508935:G:A
                                    Gene:
                                    MIR4485 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1476514797 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      11:10508612 (GRCh38)
                                      11:10530159 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:10508611:G:C
                                      Gene:
                                      MIR4485 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1476164138 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:10509109 (GRCh38)
                                        11:10530656 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:10509108:C:T
                                        Gene:
                                        MIR4485 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475480422 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:10509042 (GRCh38)
                                          11:10530589 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:10509041:G:A
                                          Gene:
                                          MIR4485 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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