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Items: 5

1.

rs162562 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    2:38070372 (GRCh38)
    2:38297515 (GRCh37)
    Canonical SPDI:
    NC_000002.12:38070371:G:A,NC_000002.12:38070371:G:C,NC_000002.12:38070371:G:T
    Gene:
    CYP1B1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.227001/64362 (ALFA)
    C=0./0 (KOREAN)
    G=0.070093/15 (Vietnamese)
    G=0.094388/74 (PRJEB37584)
    G=0.101528/186 (Korea1K)
    G=0.124514/64 (SGDP_PRJ)
    G=0.13359/2239 (TOMMO)
    G=0.166667/9 (Siberian)
    G=0.18/108 (NorthernSweden)
    G=0.217593/47 (Qatari)
    G=0.227815/878 (ALSPAC)
    G=0.241295/1081 (Estonian)
    G=0.243528/903 (TWINSUK)
    G=0.244489/244 (GoNL)
    G=0.280137/1403 (1000Genomes)
    G=0.319415/84546 (TOPMED)
    G=0.325/13 (GENOME_DK)
    G=0.32776/45889 (GnomAD)
    G=0.344401/27103 (PAGE_STUDY)
    G=0.350423/663 (HapMap)
    HGVS:
    2.

    rs386539975 has merged into rs162562 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      2:38070372 (GRCh38)
      2:38297515 (GRCh37)
      Canonical SPDI:
      NC_000002.12:38070371:G:A,NC_000002.12:38070371:G:C,NC_000002.12:38070371:G:T
      Gene:
      CYP1B1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.227001/64362 (ALFA)
      C=0./0 (KOREAN)
      G=0.070093/15 (Vietnamese)
      G=0.094388/74 (PRJEB37584)
      G=0.101528/186 (Korea1K)
      G=0.124514/64 (SGDP_PRJ)
      G=0.13359/2239 (TOMMO)
      G=0.166667/9 (Siberian)
      G=0.18/108 (NorthernSweden)
      G=0.217593/47 (Qatari)
      G=0.227815/878 (ALSPAC)
      G=0.241295/1081 (Estonian)
      G=0.243528/903 (TWINSUK)
      G=0.244489/244 (GoNL)
      G=0.280137/1403 (1000Genomes)
      G=0.319415/84546 (TOPMED)
      G=0.325/13 (GENOME_DK)
      G=0.32776/45889 (GnomAD)
      G=0.344401/27103 (PAGE_STUDY)
      G=0.350423/663 (HapMap)
      HGVS:
      3.

      rs57776047 has merged into rs162562 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        2:38070372 (GRCh38)
        2:38297515 (GRCh37)
        Canonical SPDI:
        NC_000002.12:38070371:G:A,NC_000002.12:38070371:G:C,NC_000002.12:38070371:G:T
        Gene:
        CYP1B1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.227001/64362 (ALFA)
        C=0./0 (KOREAN)
        G=0.070093/15 (Vietnamese)
        G=0.094388/74 (PRJEB37584)
        G=0.101528/186 (Korea1K)
        G=0.124514/64 (SGDP_PRJ)
        G=0.13359/2239 (TOMMO)
        G=0.166667/9 (Siberian)
        G=0.18/108 (NorthernSweden)
        G=0.217593/47 (Qatari)
        G=0.227815/878 (ALSPAC)
        G=0.241295/1081 (Estonian)
        G=0.243528/903 (TWINSUK)
        G=0.244489/244 (GoNL)
        G=0.280137/1403 (1000Genomes)
        G=0.319415/84546 (TOPMED)
        G=0.325/13 (GENOME_DK)
        G=0.32776/45889 (GnomAD)
        G=0.344401/27103 (PAGE_STUDY)
        G=0.350423/663 (HapMap)
        HGVS:
        4.

        rs3770139 has merged into rs162562 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          2:38070372 (GRCh38)
          2:38297515 (GRCh37)
          Canonical SPDI:
          NC_000002.12:38070371:G:A,NC_000002.12:38070371:G:C,NC_000002.12:38070371:G:T
          Gene:
          CYP1B1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.227001/64362 (ALFA)
          C=0./0 (KOREAN)
          G=0.070093/15 (Vietnamese)
          G=0.094388/74 (PRJEB37584)
          G=0.101528/186 (Korea1K)
          G=0.124514/64 (SGDP_PRJ)
          G=0.13359/2239 (TOMMO)
          G=0.166667/9 (Siberian)
          G=0.18/108 (NorthernSweden)
          G=0.217593/47 (Qatari)
          G=0.227815/878 (ALSPAC)
          G=0.241295/1081 (Estonian)
          G=0.243528/903 (TWINSUK)
          G=0.244489/244 (GoNL)
          G=0.280137/1403 (1000Genomes)
          G=0.319415/84546 (TOPMED)
          G=0.325/13 (GENOME_DK)
          G=0.32776/45889 (GnomAD)
          G=0.344401/27103 (PAGE_STUDY)
          G=0.350423/663 (HapMap)
          HGVS:
          5.

          rs232630 has merged into rs162562 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            2:38070372 (GRCh38)
            2:38297515 (GRCh37)
            Canonical SPDI:
            NC_000002.12:38070371:G:A,NC_000002.12:38070371:G:C,NC_000002.12:38070371:G:T
            Gene:
            CYP1B1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.227001/64362 (ALFA)
            C=0./0 (KOREAN)
            G=0.070093/15 (Vietnamese)
            G=0.094388/74 (PRJEB37584)
            G=0.101528/186 (Korea1K)
            G=0.124514/64 (SGDP_PRJ)
            G=0.13359/2239 (TOMMO)
            G=0.166667/9 (Siberian)
            G=0.18/108 (NorthernSweden)
            G=0.217593/47 (Qatari)
            G=0.227815/878 (ALSPAC)
            G=0.241295/1081 (Estonian)
            G=0.243528/903 (TWINSUK)
            G=0.244489/244 (GoNL)
            G=0.280137/1403 (1000Genomes)
            G=0.319415/84546 (TOPMED)
            G=0.325/13 (GENOME_DK)
            G=0.32776/45889 (GnomAD)
            G=0.344401/27103 (PAGE_STUDY)
            G=0.350423/663 (HapMap)
            HGVS:

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