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1.

rs152049 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:132200171 (GRCh38)
    5:131535864 (GRCh37)
    Canonical SPDI:
    NC_000005.10:132200170:C:T
    Gene:
    P4HA2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.41567/7852 (ALFA)
    C=0.285714/12 (Siberian)
    C=0.34/204 (NorthernSweden)
    T=0.351852/76 (Qatari)
    C=0.353723/133 (SGDP_PRJ)
    C=0.368708/1421 (ALSPAC)
    C=0.370011/1372 (TWINSUK)
    C=0.374749/374 (GoNL)
    C=0.398148/43 (GnomAD_exomes)
    C=0.411161/1842 (Estonian)
    C=0.43978/65536 (GnomAD_genomes)
    C=0.44248/117120 (TOPMED)
    C=0.475/19 (GENOME_DK)
    T=0.477835/2393 (1000Genomes)
    T=0.478607/3065 (1000Genomes_30X)
    T=0.478712/877 (Korea1K)
    T=0.479397/3467 (Korea4K)
    T=0.480786/37234 (TOMMO)
    T=0.483959/1418 (KOREAN)
    C=0.485714/102 (Vietnamese)
    HGVS:

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