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Rs4939883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.5 associated with higher HDL cholesterol
(C;T) 1.5 associated with higher HDL cholesterol
Make rs4939883(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49640844
is asnp
is mentioned by
dbSNPrs4939883
ebirs4939883
Exacrs4939883
PheGenIrs4939883
hapmaprs4939883
1000 genomesrs4939883
hgdprs4939883
ensemblrs4939883
gopubmedrs4939883
geneviewrs4939883
scholarrs4939883
googlers4939883
pharmgkbrs4939883
gwascentralrs4939883
openSNPrs4939883
23andMers4939883
23andMe allrs4939883
SNP Nexus

SNPshotrs4939883
SNPdbers4939883
MSV3drs4939883
GWAS Ctlgrs4939883
GMAF0.2346
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28

C allele is associated with 1.87mg/dl increase in HDL cholesterol (good cholesterol). [PMID 18193043]

GWAS snp
PMID [PMID 19060911OA-icon.png]
Trait Cholesterol, total
Title Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele G
P-val 2E-11
Odds Ratio 0.07 [NR] SD increase
GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait HDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele T
P-val 7E-15
Odds Ratio 0.14 [0.10-0.18] SD decrease





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


[PMID 19185284OA-icon.png] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.


[PMID 19287092OA-icon.png] Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.


[PMID 19435741OA-icon.png] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.


[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20018038OA-icon.png] Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study.


[PMID 20370913OA-icon.png] Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.


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


[PMID 20502693OA-icon.png] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.


GET Evidence
rs4939883
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.722222
summary



GWAS snp
PMID [PMID 19936222OA-icon.png]
Trait Lipid metabolism phenotypes
Title Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Risk Allele
P-val 6E-14
Odds Ratio 2.53 [NR] unit decrease