rs202017590

This variant is located in the LCAT gene.

▶

GWAS Catalog Trait Associations (2)

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

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.74

p 2.0e-10

N 325,634

Major Consortium StudyLarge GWAS

multi-ancestry

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.71

p 8.0e-10

N 323,833

Major Consortium StudyLarge GWAS

multi-ancestry

▶

ClinVar annotation

Uncertain Significance★★★☆

2 submitters4 publications

not provided; Norum disease;Fish-eye disease

View on ClinVar →

About LCAT

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]