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rs6511720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 2 Slightly lower odds of developing CHD.
(T;T) 2 Slightly lower odds of developing CHD.
ReferenceGRCh38 38.1/141
Chromosome19
Position11091630
GeneLDLR
is asnp
is mentioned by
dbSNPrs6511720
ebirs6511720
HLIrs6511720
Exacrs6511720
Varsomers6511720
Maprs6511720
PheGenIrs6511720
hapmaprs6511720
1000 genomesrs6511720
hgdprs6511720
ensemblrs6511720
gopubmedrs6511720
geneviewrs6511720
scholarrs6511720
googlers6511720
pharmgkbrs6511720
gwascentralrs6511720
openSNPrs6511720
23andMers6511720
23andMe allrs6511720
SNP Nexus

SNPshotrs6511720
SNPdbers6511720
MSV3drs6511720
GWAS Ctlgrs6511720
GMAF0.08173
Max Magnitude2
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait LDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele T
P-val 2E-26
Odds Ratio 0.26 [0.18-0.34] SD increase
GWAS snp
PMID [PMID 18193044OA-icon.png]
Trait LDL cholesterol
Title Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Risk Allele T
P-val 2E-51
Odds Ratio 0.26 [0.22-0.30] % SD lower
GWAS snp
PMID [PMID 18193043]
Trait LDL cholesterol
Title Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Risk Allele G
P-val 4.0000000000000002E-26
Odds Ratio 9.17 [NR] mg/dl higher



[PMID 20308432OA-icon.png] Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry


OMIM606945
Desc
Variant
Relatedalso
[PMID 21977987OA-icon.png] Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses
GWAS snp
PMID [PMID 22003152OA-icon.png]
Trait
Title Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
Risk Allele T
P-val 3E-11
Odds Ratio 0.0450 None
GWAS snp
PMID [PMID 21943158OA-icon.png]
Trait
Title Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Risk Allele T
P-val 5E-11
Odds Ratio 0.1480 [0.10-0.19] mmol/l decrease
GWAS snp
PMID [PMID 21909108OA-icon.png]
Trait
Title Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
Risk Allele T
P-val 1E-7
Odds Ratio 0.1778 [0.11-0.25] unit decrease
GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele T
P-val 0
Odds Ratio 6.9900 None


[PMID 22530058OA-icon.png] Evidence of Differential Allelic Effects between Adolescents and Adults for Plasma High-Density Lipoprotein


[PMID 18196181OA-icon.png] Correction of population stratification in large multi-ethnic association studies.


[PMID 18714375OA-icon.png] Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.


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


[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.


[PMID 19060911OA-icon.png] Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.


[PMID 19087220OA-icon.png] Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.


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


[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 19336475OA-icon.png] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.


[PMID 19408013OA-icon.png] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.


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


[PMID 19656773OA-icon.png] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.


[PMID 19750184OA-icon.png] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.


[PMID 19888660OA-icon.png] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.


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


[PMID 20031563] Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.


[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.


GET Evidence
rs6511720
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.117188
summary



[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy

GWAS snp
PMID [PMID 22916037OA-icon.png]
Trait Metabolite levels
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Risk Allele
P-val 4E-9
Odds Ratio NR NR


[PMID 23092954OA-icon.png] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.


[PMID 23404648OA-icon.png] An association study between genetic polymorphisms related to lipoprotein-associated phospholipase A(2) and coronary heart disease.

GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele T
P-val 5E-202
Odds Ratio .19 [NR] unit decrease
GWAS snp
PMID [PMID 24046328]
Trait Abdominal aortic aneurysm
Title A variant in LDLR is associated with abdominal aortic aneurysm.
Risk Allele
P-val 2E-10
Odds Ratio 1.32 [1.20-1.43]
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 5E-25
Odds Ratio 4.52 [NR] unit decrease


ClinVar
Risk rs6511720(T;T)
Alt rs6511720(T;T)
Reference rs6511720(G;G)
Significance Non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11202306G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238585.1,