U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Search results

Items: 2

1.

rs3818086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    6:42704678 (GRCh38)
    6:42672416 (GRCh37)
    Canonical SPDI:
    NC_000006.12:42704677:A:C,NC_000006.12:42704677:A:G,NC_000006.12:42704677:A:T
    Gene:
    PRPH2 (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign,likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    A=0.23991/107 (SGDP_PRJ)
    A=0.305556/11 (Siberian)
    A=0.347222/75 (Qatari)
    A=0.418089/1225 (KOREAN)
    A=0.423579/112117 (TOPMED)
    A=0.429575/2151 (1000Genomes)
    T=0.438202/234 (MGP)
    A=0.438224/61262 (GnomAD)
    A=0.439956/806 (Korea1K)
    A=0.446667/268 (NorthernSweden)
    A=0.449686/143 (HapMap)
    T=0.471159/7897 (TOMMO)
    A=0.475/19 (GENOME_DK)
    A=0.477956/477 (GoNL)
    A=0.483913/1865 (ALSPAC)
    T=0.487277/2183 (Estonian)
    T=0.498112/1847 (TWINSUK)
    HGVS:
    2.

    rs60936950 has merged into rs3818086 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G,T [Show Flanks]
      Chromosome:
      6:42704678 (GRCh38)
      6:42672416 (GRCh37)
      Canonical SPDI:
      NC_000006.12:42704677:A:C,NC_000006.12:42704677:A:G,NC_000006.12:42704677:A:T
      Gene:
      PRPH2 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      benign,likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      A=0.23991/107 (SGDP_PRJ)
      A=0.305556/11 (Siberian)
      A=0.347222/75 (Qatari)
      A=0.418089/1225 (KOREAN)
      A=0.423579/112117 (TOPMED)
      A=0.429575/2151 (1000Genomes)
      T=0.438202/234 (MGP)
      A=0.438224/61262 (GnomAD)
      A=0.439956/806 (Korea1K)
      A=0.446667/268 (NorthernSweden)
      A=0.449686/143 (HapMap)
      T=0.471159/7897 (TOMMO)
      A=0.475/19 (GENOME_DK)
      A=0.477956/477 (GoNL)
      A=0.483913/1865 (ALSPAC)
      T=0.487277/2183 (Estonian)
      T=0.498112/1847 (TWINSUK)
      HGVS:

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...