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Items: 1 to 20 of 551

1.

rs1489926187 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    1:198858648 (GRCh38)
    1:198827777 (GRCh37)
    Canonical SPDI:
    NC_000001.11:198858647:A:C
    Gene:
    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
    Functional Consequence:
    500B_downstream_variant,intron_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000019/5 (TOPMED)
    C=0.000057/8 (GnomAD)
    HGVS:
    2.

    rs1489228667 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:198859954 (GRCh38)
      1:198829083 (GRCh37)
      Canonical SPDI:
      NC_000001.11:198859953:A:G
      Gene:
      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000034/9 (TOPMED)
      G=0.000064/9 (GnomAD)
      HGVS:
      3.

      rs1489191908 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        1:198858524 (GRCh38)
        1:198827653 (GRCh37)
        Canonical SPDI:
        NC_000001.11:198858523:TTT:TT
        Gene:
        MIR181B1 (Varview), MIR181A1HG (Varview)
        Functional Consequence:
        500B_downstream_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TT=0.000071/1 (ALFA)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1488744035 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:198859008 (GRCh38)
          1:198828137 (GRCh37)
          Canonical SPDI:
          NC_000001.11:198859007:C:T
          Gene:
          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
          Functional Consequence:
          500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487519557 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:198859386 (GRCh38)
            1:198828515 (GRCh37)
            Canonical SPDI:
            NC_000001.11:198859385:G:A
            Gene:
            MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1486860772 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:198860388 (GRCh38)
              1:198829517 (GRCh37)
              Canonical SPDI:
              NC_000001.11:198860387:T:C
              Gene:
              MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1486672764 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                1:198859155 (GRCh38)
                1:198828284 (GRCh37)
                Canonical SPDI:
                NC_000001.11:198859154:A:T
                Gene:
                MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                T=0.000019/5 (TOPMED)
                T=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1485970837 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:198859523 (GRCh38)
                  1:198828652 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:198859522:C:T
                  Gene:
                  MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000042/11 (TOPMED)
                  T=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1485882015 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    1:198859885 (GRCh38)
                    1:198829014 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:198859884:G:A,NC_000001.11:198859884:G:T
                    Gene:
                    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1483185236 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:198859682 (GRCh38)
                      1:198828811 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:198859681:A:G
                      Gene:
                      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000084/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1482775835 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:198858931 (GRCh38)
                        1:198828060 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:198858930:C:T
                        Gene:
                        MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000047/1 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1481447148 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:198859018 (GRCh38)
                          1:198828147 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:198859017:C:T
                          Gene:
                          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1479595513 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:198859674 (GRCh38)
                            1:198828803 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:198859673:T:G
                            Gene:
                            MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1479556741 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:198858408 (GRCh38)
                              1:198827537 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:198858407:C:G
                              Gene:
                              MIR181B1 (Varview), MIR181A1HG (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,intron_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1476507537 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:198860514 (GRCh38)
                                1:198829643 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:198860513:A:G
                                Gene:
                                MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000029/4 (GnomAD)
                                G=0.000042/11 (TOPMED)
                                HGVS:
                                16.

                                rs1475530470 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:198860045 (GRCh38)
                                  1:198829174 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:198860044:T:G
                                  Gene:
                                  MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1470563195 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:198859297 (GRCh38)
                                    1:198828426 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:198859296:C:A
                                    Gene:
                                    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1469426076 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:198859544 (GRCh38)
                                      1:198828673 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:198859543:A:G
                                      Gene:
                                      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1467061730 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CAAAA [Show Flanks]
                                        Chromosome:
                                        1:198858685 (GRCh38)
                                        1:198827815 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:198858685:A:ACAAAA
                                        Gene:
                                        MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        ACAAAA=0./0 (ALFA)
                                        ACAAA=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1466128285 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          1:198860701 (GRCh38)
                                          1:198829830 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:198860700:G:C
                                          Gene:
                                          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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