rs12678919

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (10)

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

triglyceride measurement

Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.17
p 5.0e-217
N 206,044
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 0.07
p 3.0e-52
N 111,909
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 13.64
p 2.0e-115
N 96,598
Large GWAS
European
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 0.17
p 2.0e-147
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR 0.17
p 2.0e-199
N 94,595
Large GWAS
European
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele G
OR 0.25
p 2.0e-41
N 19,840
Large GWAS
European
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.15
p 2.0e-10
N 13,814
Large GWAS
European
Tang CS et al. “Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.” Nature Communications 6:10206 (2015)
Allele G
OR 0.19
p 2.0e-17
N 12,685
Large GWAS
East Asian
Lu X et al. “Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.” Circulation. Cardiovascular Genetics 9(1):37-44 (2016)
Allele G
OR 0.04
p 4.0e-25
N 8,344
Large GWAS
East Asian
Proust C et al. “Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.” Circulation. Cardiovascular Genetics 8(4):628-36 (2015)
Allele G
OR 0.10
p 3.0e-11
N 3,681
Large GWAS
Kurano M et al. “Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.” Journal of Human Genetics 61(5):427-33 (2016)
Allele G
OR 0.23
p 2.0e-8
N 2,994
Large GWAS
East Asian

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele A
OR 0.20
p 5.0e-28
N 107,230
Large GWAS
East Asian

high density lipoprotein cholesterol measurement

Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.16
p 1.0e-36
N 222,097
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 0.03
p 1.0e-52
N 133,824
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 2.25
p 1.0e-97
N 99,900
Large GWAS
European
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 0.12
p 1.0e-87
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR 0.15
p 1.0e-149
N 94,595
Large GWAS
European
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele G
OR 0.23
p 2.0e-34
N 19,840
Large GWAS
European
Lu X et al. “Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.” Circulation. Cardiovascular Genetics 9(1):37-44 (2016)
Allele G
OR 1.95
p 2.0e-21
N 8,344
Large GWAS
East Asian
Proust C et al. “Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.” Circulation. Cardiovascular Genetics 8(4):628-36 (2015)
Allele G
OR 0.05
p 3.0e-10
N 3,681
Large GWAS
Nishida Y et al. “The interaction between ABCA1 polymorphism and physical activity on the HDL-cholesterol levels in a Japanese population.” Journal of Lipid Research 61(1):86-94 (2020)
Allele G
OR 0.04
p 5.0e-9
N 2,231
Large GWAS
East Asian
Bandesh K et al. “Genome-wide association study of blood lipids in Indians confirms universality of established variants.” Journal of Human Genetics 64(6):573-587 (2019)
Allele G
OR 2.59
p 4.0e-11
N 1,036
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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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
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Investigation of genetic risk factors for chronic adult diseases for association with preterm birth
AssociationN=1,792Nadia Falah et al.(2013)· Human Genetics

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

Traits studied:Cardiovascular diseaseHeight and weightHemostasis and thrombosisHypertensionInflammatory and immunological diseaseLipids and glucose metabolismMyocardial infarctionObesityPreterm birth
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.

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