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Items: 2

1.

rs1056827 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    2:38075034 (GRCh38)
    2:38302177 (GRCh37)
    Canonical SPDI:
    NC_000002.12:38075033:C:A
    Gene:
    CYP1B1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    benign-likely-benign,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.297779/29894 (ALFA)
    A=0.034091/3 (HapMap)
    A=0.111375/1867 (TOMMO)
    A=0.136066/83 (Vietnamese)
    A=0.160371/467 (KOREAN)
    A=0.1693/300 (Korea1K)
    A=0.186375/145 (PRJEB37584)
    A=0.2589/960 (TWINSUK)
    A=0.280228/1080 (ALSPAC)
    A=0.318875/65208 (GnomAD_exomes)
    A=0.336529/4072 (GoESP)
    A=0.342593/74 (Qatari)
    A=0.345/91318 (TOPMED)
    A=0.351665/49269 (GnomAD)
    A=0.353795/1585 (Estonian)
    A=0.361667/217 (NorthernSweden)
    A=0.364928/1828 (1000Genomes)
    C=0.386986/113 (SGDP_PRJ)
    A=0.411966/29809 (ExAC)
    C=0.4375/14 (Siberian)
    HGVS:

    PubMedLitVar

    2.

    rs3172103 has merged into rs1056827 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      2:38075034 (GRCh38)
      2:38302177 (GRCh37)
      Canonical SPDI:
      NC_000002.12:38075033:C:A
      Gene:
      CYP1B1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      benign-likely-benign,benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.297779/29894 (ALFA)
      A=0.034091/3 (HapMap)
      A=0.111375/1867 (TOMMO)
      A=0.136066/83 (Vietnamese)
      A=0.160371/467 (KOREAN)
      A=0.1693/300 (Korea1K)
      A=0.186375/145 (PRJEB37584)
      A=0.2589/960 (TWINSUK)
      A=0.280228/1080 (ALSPAC)
      A=0.318875/65208 (GnomAD_exomes)
      A=0.336529/4072 (GoESP)
      A=0.342593/74 (Qatari)
      A=0.345/91318 (TOPMED)
      A=0.351665/49269 (GnomAD)
      A=0.353795/1585 (Estonian)
      A=0.361667/217 (NorthernSweden)
      A=0.364928/1828 (1000Genomes)
      C=0.386986/113 (SGDP_PRJ)
      A=0.411966/29809 (ExAC)
      C=0.4375/14 (Siberian)
      HGVS:

      Supplemental Content

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