rs13204642

This is a intron variant variant in the BPHL gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

X-17676 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)

Allele C

OR 0.59

p 2.0e-49

N 6,136

Large GWAS

European

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.34

p 6.0e-20

N 8,809

Large GWAS

European

About BPHL

This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]

View all BPHL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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