|| common in complete genomics
|?|| (A;A) (A;G) (G;G) ||28|
The 23andMe blog reports that the minor allele of this SNP (A) is associated with decreased LDL levels, increased HDL cholesterol levels, and decreased triglyceride levels.
DeCode reports that the G allele is associated with a lower risk of gallstone disease (cholelithiasis) [PMID 17632509].
|| [PMID 19060911]
|| Cholesterol, total
|| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
| Risk Allele
| Odds Ratio
|| 0.15 [NR] SD increase
[PMID 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
|| Low clinical importance, Likely protective
|| This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.
[PMID 24256507] Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)