U.S. flag

An official website of the United States government

Display Settings:

Format

Send to:

Choose Destination
1.

rs1799990 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    20:4699605 (GRCh38)
    20:4680251 (GRCh37)
    Canonical SPDI:
    NC_000020.11:4699604:A:G
    Gene:
    PRNP (Varview)
    Functional Consequence:
    missense_variant,3_prime_UTR_variant,coding_sequence_variant
    Clinical significance:
    risk-factor,likely-benign,benign-likely-benign,uncertain-significance,pathogenic,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.3352519/56907 (ALFA)
    G=0.026694/78 (KOREAN)
    G=0.0276873/17 (Vietnamese)
    G=0.0318031/230 (Korea4K)
    G=0.0405842/3143 (TOMMO)
    G=0.1818182/8 (PRJEB36033)
    G=0.2665735/1335 (1000Genomes)
    G=0.2687831/508 (HapMap)
    G=0.2729544/1748 (1000Genomes_30X)
    G=0.2993421/91 (FINRISK)
    G=0.3077768/37289 (ExAC)
    G=0.3127208/354 (Daghestan)
    G=0.3155561/24833 (PAGE_STUDY)
    G=0.3202247/171 (MGP)
    G=0.3212054/1439 (Estonian)
    G=0.3284285/460280 (GnomAD_exomes)
    G=0.3290871/49007 (GnomAD_genomes)
    G=0.3344121/1240 (TWINSUK)
    G=0.3360951/88961 (TOPMED)
    G=0.337963/73 (Qatari)
    G=0.3456914/345 (GoNL)
    G=0.35/14 (GENOME_DK)
    G=0.3526207/1359 (ALSPAC)
    A=0.3779528/96 (SGDP_PRJ)
    A=0.3823529/13 (Siberian)
    G=0.3916667/235 (NorthernSweden)
    HGVS:

    Supplemental Content

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...