rs3764261

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

56959412

is a	snp
is	mentioned by
dbSNP	rs3764261
dbSNP (classic)	rs3764261
ClinGen	rs3764261
ebi	rs3764261
HLI	rs3764261
Exac	rs3764261
Gnomad	rs3764261
Varsome	rs3764261
LitVar	rs3764261
Map	rs3764261
PheGenI	rs3764261
Biobank	rs3764261
1000 genomes	rs3764261
hgdp	rs3764261
ensembl	rs3764261
geneview	rs3764261
scholar	rs3764261
google	rs3764261
pharmgkb	rs3764261
gwascentral	rs3764261
openSNP	rs3764261
23andMe	rs3764261
SNPshot	rs3764261
SNPdbe	rs3764261
MSV3d	rs3764261
GWAS Ctlg	rs3764261

GMAF

0.2695

Max Magnitude

2.5

?	(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 19060910]
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 20385819]
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 20686565]
Trait
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 20694148]
Trait
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

OMIM	118470
Desc
Variant
Related	also

GWAS snp
PMID	[PMID 21386085]
Trait
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 21149302] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population

GWAS snp
PMID	[PMID 21665990]
Trait
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 22143414] Genetic variation in cholesterol ester transfer protein, serum CETP activity, and coronary artery disease risk in Asian Indian diabetic cohort

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

GWAS snp
PMID	[PMID 22286219]
Trait
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 16700901] Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.

[PMID 17357073] 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 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

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

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

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

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

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

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

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

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

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

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

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

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

[PMID 20160193] 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 20205905] Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.

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

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

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

[PMID 21347282] 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.

[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 23050023] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals

[PMID 23861364] 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 24223199] 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 23675527] The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

GWAS snp
PMID	[PMID 24386095]
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 24097068]
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

ClinVar
Risk	Rs3764261(T;T)
Alt	Rs3764261(T;T)
Reference	Rs3764261(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene
CLNDBN	not provided
Reversed	1
HGVS	NC_000016.9:g.56993324C>A
CLNSRC
CLNACC	RCV000190313.1,

[PMID 29699816] Weight gain prevention buffers the impact of CETP rs3764261 on high density lipoprotein cholesterol in young adulthood: The Study of Novel Approaches to Weight Gain Prevention (SNAP).

[PMID 29942448] Cholesteryl ester transfer protein gene variations and macronutrient intakes interaction in relation to metabolic syndrome: Tehran lipid and glucose study.

[PMID 31910446] Genome-wide association study of metabolic syndrome in Korean populations.