rs493258

This is a intron variant variant.

▶

GWAS Catalog Trait Associations (5)

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

age-related macular degeneration

Neale BM et al. “Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).” Proceedings of the National Academy of Sciences of the United States of America 107(16):7395-400 (2010)
Allele C
OR 1.16
p 2.0e-8
N 2,688
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular Degeneration
AssociationN=472Li-Xia Lou et al.(2014)· JAMA Ophthalmology

Prospective cohort study of 472 elderly French participants (mean age 81.9 years) from the ALIENOR study examining incident reticular pseudodrusen (RPD). Annual incidence was 2.047% with estimated 5-year cumulative incidence of 9.73%. Risk factors identified in multivariate analysis included ARMS2 rs10490924 (HR 3.36, p=0.0009), LIPC rs10468017 (HR 2.65, p=0.0029), and thinner choroidal thickness (HR 1.06, p=0.0085). Liposoluble statin medication was protective (HR 0.18, p=0.0448).

Traits studied:age-related macular degenerationreticular pseudodrusen
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…