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rs3764261

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome16
Position56959412
is asnp
is mentioned by
dbSNPrs3764261
ebirs3764261
HLIrs3764261
Exacrs3764261
Varsomers3764261
Maprs3764261
PheGenIrs3764261
hapmaprs3764261
1000 genomesrs3764261
hgdprs3764261
ensemblrs3764261
gopubmedrs3764261
geneviewrs3764261
scholarrs3764261
googlers3764261
pharmgkbrs3764261
gwascentralrs3764261
openSNPrs3764261
23andMers3764261
23andMe allrs3764261
SNP Nexus

SNPshotrs3764261
SNPdbers3764261
MSV3drs3764261
GWAS Ctlgrs3764261
GMAF0.2695
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]
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 20694148OA-icon.png]
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


OMIM118470
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21386085OA-icon.png]
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 21149302OA-icon.png] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population

GWAS snp
PMID [PMID 21665990OA-icon.png]
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 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]
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 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
rs3764261
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.335938
summary



[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


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,