rs6511720

plus

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.

Reference

GRCh38 38.1/141

Chromosome

19

Position

11091630

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs6511720
dbSNP (classic)	rs6511720
ClinGen	rs6511720
ebi	rs6511720
HLI	rs6511720
Exac	rs6511720
Gnomad	rs6511720
Varsome	rs6511720
LitVar	rs6511720
Map	rs6511720
PheGenI	rs6511720
Biobank	rs6511720
1000 genomes	rs6511720
hgdp	rs6511720
ensembl	rs6511720
geneview	rs6511720
scholar	rs6511720
google	rs6511720
pharmgkb	rs6511720
gwascentral	rs6511720
openSNP	rs6511720
23andMe	rs6511720
SNPshot	rs6511720
SNPdbe	rs6511720
MSV3d	rs6511720
GWAS Ctlg	rs6511720

GMAF

0.08173

Max Magnitude

2

?

(G;G) (G;T) (T;T)

28

GWAS snp
PMID	[PMID 19060906 ]
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 18193044 ]
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 20308432 ] Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry

OMIM	606945
Desc
Variant
Related	also

[PMID 21977987 ] Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

GWAS snp
PMID	[PMID 22003152 ]
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 21943158 ]
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 21909108 ]
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 20686565 ]
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 22530058 ] Evidence of Differential Allelic Effects between Adolescents and Adults for Plasma High-Density Lipoprotein

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

[PMID 18714375 ] 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 18852197 ] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

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

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

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

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

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

[PMID 19336475 ] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

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

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

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

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

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

[PMID 19951432 ] 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 21347282 ] Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

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

GWAS snp
PMID	[PMID 22916037 ]
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 23092954 ] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

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

GWAS snp
PMID	[PMID 24097068 ]
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 19936222 ]
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,