U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 531

1.

rs1489514107 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    8:74704035 (GRCh38)
    8:75616270 (GRCh37)
    Canonical SPDI:
    NC_000008.11:74704034:C:A,NC_000008.11:74704034:C:T
    Gene:
    MIR2052HG (Varview), MIR2052 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.00007/1 (TOMMO)
    HGVS:
    2.

    rs1486161779 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      8:74704997 (GRCh38)
      8:75617232 (GRCh37)
      Canonical SPDI:
      NC_000008.11:74704996:A:C,NC_000008.11:74704996:A:G
      Gene:
      MIR2052HG (Varview), MIR2052 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000054/1 (ALFA)
      G=0.000008/2 (TOPMED)
      C=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1484826499 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        8:74705926 (GRCh38)
        8:75618161 (GRCh37)
        Canonical SPDI:
        NC_000008.11:74705925:C:G
        Gene:
        MIR2052HG (Varview), MIR2052 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1483720041 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:74703709 (GRCh38)
          8:75615944 (GRCh37)
          Canonical SPDI:
          NC_000008.11:74703708:G:A
          Gene:
          MIR2052HG (Varview), MIR2052 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000094/1 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000009/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1482796254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:74706093 (GRCh38)
            8:75618328 (GRCh37)
            Canonical SPDI:
            NC_000008.11:74706092:T:C
            Gene:
            MIR2052HG (Varview), MIR2052 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1482774607 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              8:74705229 (GRCh38)
              8:75617464 (GRCh37)
              Canonical SPDI:
              NC_000008.11:74705228:T:A
              Gene:
              MIR2052HG (Varview), MIR2052 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1482132443 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:74703768 (GRCh38)
                8:75616003 (GRCh37)
                Canonical SPDI:
                NC_000008.11:74703767:C:T
                Gene:
                MIR2052HG (Varview), MIR2052 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1481892597 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  8:74704405 (GRCh38)
                  8:75616640 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:74704404:C:G,NC_000008.11:74704404:C:T
                  Gene:
                  MIR2052HG (Varview), MIR2052 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1481815227 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:74705564 (GRCh38)
                    8:75617799 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:74705563:G:A
                    Gene:
                    MIR2052HG (Varview), MIR2052 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1477698559 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>- [Show Flanks]
                      Chromosome:
                      8:74704040 (GRCh38)
                      8:75616275 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:74704037:TTTT:TT
                      Gene:
                      MIR2052HG (Varview), MIR2052 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTT=0.000071/1 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1477440693 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:74705806 (GRCh38)
                        8:75618041 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:74705805:C:T
                        Gene:
                        MIR2052HG (Varview), MIR2052 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1477388252 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          8:74704644 (GRCh38)
                          8:75616879 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:74704643:T:G
                          Gene:
                          MIR2052HG (Varview), MIR2052 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1476299443 has merged into rs1379396774 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>-,AA [Show Flanks]
                            Chromosome:
                            8:74705898 (GRCh38)
                            8:75618133 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:74705897:AAAAAAAA:AAAAAAA,NC_000008.11:74705897:AAAAAAAA:AAAAAAAAA
                            Gene:
                            MIR2052HG (Varview), MIR2052 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAA=0.000122/2 (ALFA)
                            -=0.000026/7 (TOPMED)
                            -=0.000312/2 (1000Genomes)
                            -=0.000446/2 (Estonian)
                            HGVS:
                            14.

                            rs1475583021 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:74704619 (GRCh38)
                              8:75616854 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:74704618:G:A
                              Gene:
                              MIR2052HG (Varview), MIR2052 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1472523014 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:74705023 (GRCh38)
                                8:75617258 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:74705022:G:A
                                Gene:
                                MIR2052HG (Varview), MIR2052 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1472401331 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:74706210 (GRCh38)
                                  8:75618445 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:74706209:G:A
                                  Gene:
                                  MIR2052HG (Varview), MIR2052 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1468810269 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:74704669 (GRCh38)
                                    8:75616904 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:74704668:C:T
                                    Gene:
                                    MIR2052HG (Varview), MIR2052 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1468783220 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:74705704 (GRCh38)
                                      8:75617939 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:74705703:A:G
                                      Gene:
                                      MIR2052HG (Varview), MIR2052 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1468308211 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:74705662 (GRCh38)
                                        8:75617897 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:74705661:G:A
                                        Gene:
                                        MIR2052HG (Varview), MIR2052 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1467756303 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          8:74704223 (GRCh38)
                                          8:75616458 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:74704222:A:C
                                          Gene:
                                          MIR2052HG (Varview), MIR2052 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...