rs9989419

GWAS Catalog Trait Associations (17)

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

high 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 G
OR 0.14
p 9.9e-324
N 578,125
Major Consortium StudyLarge GWAS
multi-ancestry
Allele G
OR 0.03
p 8.0e-133
N 133,824
Large GWAS
multi-ancestry
Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele G
OR 0.13
p 4.0e-251
N 94,674
Large GWAS
multi-ancestry
Allele G
OR 0.14
p 1.0e-200
N 88,329
Large GWAS
European
de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR
β 0.014
p 2.0e-12
N 71,394
Large GWAS
multi-ancestry
Kulminski AM et al. Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids. The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 2.04
p 2.0e-39
N 29,902
Large GWAS
European
Allele G
OR 0.11
p 5.0e-22
N 22,000
Large GWAS
South Asian
Waterworth DM et al. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arteriosclerosis, Thrombosis, and Vascular Biology 30(11):2264-76 (2010)
Allele G
OR 0.04
p 1.0e-32
N 17,723
Large GWAS
multi-ancestry
Allele G
OR 1.72
p 3.0e-31
N 8,656
Large GWAS
European
Allele G
OR 2.66
p 9.0e-27
N 4,274
Large GWAS
European
Allele G
OR 1.51
p 4.0e-11
N 1,036
Large GWAS
multi-ancestry
Keller M et al. THOC5: a novel gene involved in HDL-cholesterol metabolism. Journal of Lipid Research 54(11):3170-6 (2013)
Allele G
OR 6.57
p 5.0e-11
N 839
Small GWAS
European

total lipids in large HDL

Allele A
OR 0.13
p 1.0e-200
N 88,329
Large GWAS
European

low density lipoprotein cholesterol measurement, alcohol drinking

de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR
p 4.0e-18
N 127,326
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Allele A
OR 0.02
p 4.0e-13
N 269,545
Major Consortium StudyLarge GWAS
European

Research that mentions this SNP (1)

Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
AssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics

This study investigated gene-environment interactions between 23 GWAS-identified lipid-associated SNPs and serum vitamins A and E in the National Health and Nutrition Examination Surveys (NHANES), including 5,576 participants across three racial/ethnic groups. Nine significant interactions were identified, with the most significant being APOB rs693×vitamin E associated with LDL-C in Mexican Americans (p=8.94×10⁻⁷). These nine interactions explained only 0.35-1.28% of variation in lipid traits, suggesting that gene-environment interactions account for modest proportions of the missing heritability in lipid metabolism.

Traits studied:HDL-C (High-Density Lipoprotein Cholesterol)LDL-C (Low-Density Lipoprotein Cholesterol)Triglycerides

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…