rs12283162
This is a downstream gene variant variant in the BCO2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of 6-pyruvoyl tetrahydrobiopterin synthase in blood serum
Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 0.30
p 3.0e-22
N 2,917
Large GWAS
European
About BCO2
This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
View all BCO2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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