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1.

rs9288952 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    3:112466178 (GRCh38)
    3:112185025 (GRCh37)
    Canonical SPDI:
    NC_000003.12:112466177:G:A,NC_000003.12:112466177:G:C
    Gene:
    BTLA (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.094922/35657 (ALFA)
    G=0./0 (PRJEB36033)
    G=0.025/1 (GENOME_DK)
    G=0.026316/8 (FINRISK)
    G=0.028801/111 (ALSPAC)
    G=0.032064/32 (GoNL)
    G=0.035329/131 (TWINSUK)
    G=0.045759/205 (Estonian)
    G=0.074906/40 (MGP)
    G=0.093333/56 (NorthernSweden)
    G=0.114437/130 (Daghestan)
    G=0.125/7 (Siberian)
    G=0.137712/65 (SGDP_PRJ)
    G=0.166958/20266 (ExAC)
    G=0.194444/42 (Qatari)
    G=0.250692/1812 (Korea4K)
    G=0.25256/740 (KOREAN)
    G=0.254913/467 (Korea1K)
    G=0.256718/535 (HGDP_Stanford)
    G=0.261364/207 (PRJEB37584)
    G=0.264079/39371 (GnomAD_genomes)
    G=0.266339/3464 (GoESP)
    G=0.269942/20900 (TOMMO)
    G=0.301795/79882 (TOPMED)
    G=0.324104/199 (Vietnamese)
    G=0.355431/1780 (1000Genomes)
    G=0.363523/2328 (1000Genomes_30X)
    G=0.431746/816 (HapMap)
    G=0.460229/36220 (PAGE_STUDY)
    HGVS:
    NC_000003.12:g.112466178G>A, NC_000003.12:g.112466178G>C, NC_000003.11:g.112185025G>A, NC_000003.11:g.112185025G>C, NG_100257.1:g.187G>A, NG_100257.1:g.187G>C, XM_011512447.4:c.818C>T, XM_011512447.4:c.818C>G, XM_011512447.3:c.818C>T, XM_011512447.3:c.818C>G, XM_011512447.2:c.818C>T, XM_011512447.2:c.818C>G, XM_011512447.1:c.818C>T, XM_011512447.1:c.818C>G, NM_181780.4:c.800C>T, NM_181780.4:c.800C>G, NM_181780.3:c.800C>T, NM_181780.3:c.800C>G, XM_017005748.3:c.800C>T, XM_017005748.3:c.800C>G, XM_017005748.2:c.800C>T, XM_017005748.2:c.800C>G, XM_017005748.1:c.800C>T, XM_017005748.1:c.800C>G, NM_001085357.2:c.656C>T, NM_001085357.2:c.656C>G, NM_001085357.1:c.656C>T, NM_001085357.1:c.656C>G, XM_047447496.1:c.656C>T, XM_047447496.1:c.656C>G, XP_011510749.1:p.Pro273Leu, XP_011510749.1:p.Pro273Arg, NP_861445.4:p.Pro267Leu, NP_861445.4:p.Pro267Arg, XP_016861237.1:p.Pro267Leu, XP_016861237.1:p.Pro267Arg, NP_001078826.1:p.Pro219Leu, NP_001078826.1:p.Pro219Arg, XP_047303452.1:p.Pro219Leu, XP_047303452.1:p.Pro219Arg

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