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From SNPedia

Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2 associated with higher HDL cholesterol
(T;T) 2.5 associated with higher HDL cholesterol. HDL = good
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs3764261
23andMe allrs3764261
SNP Nexus

GWAS Ctlgrs3764261
Max Magnitude2.5
? (G;G) (G;T) (T;T) 28

T allele is associated with 3.47mg/dl increase in HDL cholesterol (good cholesterol). [PMID 18193043]

GWAS snp
PMID [PMID 19060910OA-icon.png]
Trait HDL cholesterol
Title Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Risk Allele A
P-val 7E-29
Odds Ratio 0.09 [0.08-0.11] mmol/l increase
GWAS snp
PMID [PMID 18454146]
Trait Waist circumference and related phenotypes
Title Common genetic variation near MC4R is associated with waist circumference and insulin resistance
Risk Allele
P-val 1E-27
Odds Ratio NR NR
GWAS snp
PMID [PMID 18193043]
Trait HDL cholesterol
Title Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Risk Allele A
P-val 1.9999999999999999E-57
Odds Ratio 3.47 [NR] mg/dl higher
GWAS snp
PMID [PMID 19359809]
Trait LDL cholesterol
Title Identification of Genetic Markers Associated With High-Density Lipoprotein-Cholesterol by Genome-Wide Screening in a Japanese Population
Risk Allele A
P-val 3E-12
Odds Ratio 6.20 mg/dl increase

GWAS snp
PMID [PMID 20385819OA-icon.png]
Trait Age-related macular degeneration
Title Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
Risk Allele A
P-val 7E-7
Odds Ratio 1.19 [1.12-1.27]
GWAS snp
PMID [PMID 20686565OA-icon.png]
Title Biological, clinical and population relevance of 95 loci for blood lipids
Risk Allele A
P-val 0
Odds Ratio 3.39 [NR] unit increase
GWAS snp
PMID [PMID 20694148OA-icon.png]
Title A genome-wide association study of the metabolic syndrome in Indian Asian men
Risk Allele A
P-val 1E-48
Odds Ratio 0.07 [0.06-0.08] mmol/l increase

GWAS snp
PMID [PMID 21386085OA-icon.png]
Title A Bivariate Genome-Wide Approach to Metabolic Syndrome: STAMPEED Consortium
Risk Allele G
P-val 3E-13
Odds Ratio 0.2900 [0.21-0.37] unit increase

[PMID 21149302OA-icon.png] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population

GWAS snp
PMID [PMID 21665990OA-icon.png]
Title Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Risk Allele A
P-val 7E-9
Odds Ratio 1.1500 [NR]

[PMID 21831959] Race/Ethnic Variation in the Association of Lipid-Related Genetic Variants with Blood Lipids in the Adult U.S. Population

[PMID 22143414OA-icon.png] Genetic variation in cholesterol ester transfer protein, serum CETP activity, and coronary artery disease risk in Asian Indian diabetic cohort

[PMID 22235250OA-icon.png] Quantile-specific penetrance of genes affecting lipoproteins, adiposity and height

GWAS snp
PMID [PMID 22286219OA-icon.png]
Title Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Risk Allele
P-val 1E-36
Odds Ratio 0.2200 None

[PMID 16700901OA-icon.png] Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.

[PMID 17357073OA-icon.png] Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.

[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

[PMID 18254975OA-icon.png] Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19148283OA-icon.png] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

[PMID 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

[PMID 19679263OA-icon.png] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.

[PMID 19682379OA-icon.png] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

[PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 20018034OA-icon.png] Multivariate association analysis of the components of metabolic syndrome from the Framingham Heart Study.

[PMID 20018039OA-icon.png] Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.

[PMID 20018043OA-icon.png] Defining genetic determinants of the Metabolic Syndrome in the Framingham Heart Study using association and structural equation modeling methods.

[PMID 20018089OA-icon.png] Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data.

[PMID 20160193OA-icon.png] Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.

[PMID 20205905OA-icon.png] Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.

[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

[PMID 20385826OA-icon.png] Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

[PMID 21283740OA-icon.png] Large-scale candidate gene analysis of HDL particle features.

[PMID 21347282OA-icon.png] Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

[PMID 21430028] Association of GWAS-based candidate genes with HDL-cholesterol levels before and after bariatric surgery in the Swedish obese subjects study.

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.335938

[PMID 23262498] Impact of geneticfactorsondyslipidemia in HIV-infected patients starting antiretroviral therapy

GWAS snp
PMID [PMID 23118302]
Trait Lipoprotein-associated phospholipase A2 activity and mass
Title Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
Risk Allele T
P-val 7E-21
Odds Ratio .02 [0.014-0.030] ng/ml increase

[PMID 23050023OA-icon.png] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals

[PMID 23861364OA-icon.png] Do Genetic Modifiers of HDL-C and Triglyceride Levels also Modify Their Response to a Lifestyle Intervention in the Setting of Obesity and Type-2 Diabetes Mellitus? The Look AHEAD Study

[PMID 24080640] Cholesteryl ester transfer protein (CETP) polymorphisms, statin use, and their impact on cholesterol levels and cardiovascular events

[PMID 24223199OA-icon.png] Association of HDL-Related Loci with Age-Related Macular Degeneration and Plasma Lutein and Zeaxanthin: the Alienor Study

[PMID 24393350] Genes in the High-Density Lipoprotein Metabolic Pathway in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy

[PMID 22715478] Genotypes associated with lipid metabolism contribute to differences in serum lipid profile of GH-deficient adults before and after GH replacement therapy.

[PMID 23675527OA-icon.png] The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

GWAS snp
PMID [PMID 24386095OA-icon.png]
Trait Lipid traits
Title A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
Risk Allele T
P-val 2E-25
Odds Ratio .06 [0.046-0.078] mmol/L increase
GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele A
P-val 4E-31
Odds Ratio .05 [NR] unit increase
GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population.
Risk Allele A
P-val 5E-29
Odds Ratio .25 [0.21-0.3] unit increase

[PMID 26318399] Association between CETP gene polymorphism, insulin resistance and risk of diabetes mellitus in patients with vascular disease

Risk rs3764261(T;T)
Alt rs3764261(T;T)
Reference rs3764261(G;G)
Significance Untested
Disease not provided
Variation info
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.56993324C>A
CLNACC RCV000190313.1,