rs116402171
This is a intron variant variant in the PKD1L3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
apolipoprotein L1 measurement
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.25
p 6.0e-21
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
apolipoprotein A 1 measurement
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.02
p 1.0e-14
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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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