rs10045497

This is a regulatory region variant variant in the HMGCR gene.

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GWAS Catalog Trait Associations (3)

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

low density lipoprotein cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 7.0e-91
N 578,955
Major Consortium StudyLarge GWAS
multi-ancestry
Zhou L et al. “A genome wide association study identifies common variants associated with lipid levels in the Chinese population.” Plos One 8(12):e82420 (2013)
Allele C
OR 0.10
p 1.0e-12
N 3,451
Large GWAS
East Asian

non-high density lipoprotein cholesterol measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.08
p 7.0e-17
N 38,000
Large GWAS
South Asian

total cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 1.0e-16
N 112,278
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Zhou L et al. “A genome wide association study identifies common variants associated with lipid levels in the Chinese population.” Plos One 8(12):e82420 (2013)
Allele C
OR 0.02
p 2.0e-8
N 3,451
Large GWAS
East Asian

About HMGCR

HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

View all HMGCR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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