rs8051431
This is a intron variant variant in the PKD1L3 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.
low density lipoprotein cholesterol measurement
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele C
OR 0.07
p 4.0e-15
N 205,367
Large GWAS
multi-ancestry
About PKD1L3
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]
View all PKD1L3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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