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1.

rs2289519 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    18:63493054 (GRCh38)
    18:61160287 (GRCh37)
    Canonical SPDI:
    NC_000018.10:63493053:T:A,NC_000018.10:63493053:T:C,NC_000018.10:63493053:T:G
    Gene:
    SERPINB5 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.3060261/83468 (ALFA)
    G=0./0 (KOREAN)
    T=0.1578947/6 (PRJEB36033)
    T=0.2222222/48 (Qatari)
    T=0.2365145/114 (SGDP_PRJ)
    T=0.2543211/20011 (PAGE_STUDY)
    T=0.2586499/3364 (GoESP)
    T=0.2681237/503 (HapMap)
    T=0.275/11 (GENOME_DK)
    T=0.2751105/72819 (TOPMED)
    T=0.2797881/41722 (GnomAD_genomes)
    T=0.2812305/1801 (1000Genomes_30X)
    T=0.2845447/1425 (1000Genomes)
    T=0.2865169/153 (MGP)
    T=0.3077322/1186 (ALSPAC)
    T=0.3090615/1146 (TWINSUK)
    T=0.3157895/96 (FINRISK)
    T=0.316914/444115 (GnomAD_exomes)
    T=0.3284471/39861 (ExAC)
    T=0.3316633/331 (GoNL)
    T=0.3348214/1500 (Estonian)
    T=0.336039/207 (Vietnamese)
    T=0.3409091/15 (Siberian)
    T=0.3474729/385 (Daghestan)
    T=0.3562439/736 (HGDP_Stanford)
    T=0.3933333/236 (NorthernSweden)
    T=0.4088761/31665 (TOMMO)
    T=0.4395908/3180 (Korea4K)
    T=0.4399563/806 (Korea1K)
    T=0.4923469/386 (PRJEB37584)
    HGVS:

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