rs646776

minus

Geno	Mag	Summary
(A;A)	2.1	1.2x risk of coronary artery disease

Make rs646776(A;G)

Make rs646776(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

109275908

Gene

CELSR2

is a	snp
is	mentioned by
dbSNP	rs646776
dbSNP (classic)	rs646776
ClinGen	rs646776
ebi	rs646776
HLI	rs646776
Exac	rs646776
Gnomad	rs646776
Varsome	rs646776
LitVar	rs646776
Map	rs646776
PheGenI	rs646776
Biobank	rs646776
1000 genomes	rs646776
hgdp	rs646776
ensembl	rs646776
geneview	rs646776
scholar	rs646776
google	rs646776
pharmgkb	rs646776
gwascentral	rs646776
openSNP	rs646776
23andMe	rs646776
SNPshot	rs646776
SNPdbe	rs646776
MSV3d	rs646776
GWAS Ctlg	rs646776

GMAF

0.2121

Max Magnitude

2.1

?

(A;A) (A;G) (G;G)

28

[PMID 18262040 ] rs599839 and rs4970834 explain about 1% of the variation in circulating LDL-cholesterol levels. "When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus," said Sandhu. "This is equivalent to more established genes for LDL regulation, particularly APOE." rs646776 also linked.

23andMe blog coronary artery disease and heart attack

SNP Risk Version Effect

rs646776 T 1.19
rs17465637 C 1.14
rs1746048 C 1.17
rs6725887 C 1.17
rs11206510 T 1.15
rs3184504 T 1.13
rs2306374 C 1.15
rs3782886 C 1.44

GWAS
SNP	rs646776
PubMedID	[PMID 18193044 ]
Condition	LDL cholesterol
Gene	CELSR2,PSRC1,SORT1
Risk Allele	C
pValue	3.00E-029
OR	0.16
95% CI	0.14-0.18) % SD lowe

[PMID 19380133] Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis

GWAS snp
PMID	[PMID 19198609 ]
Trait	Myocardial infarction (early onset)
Title	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Risk Allele	T
P-val	8E-12
Odds Ratio	1.19 [1.13-1.26]

GWAS snp
PMID	[PMID 19060911 ]
Trait	Cholesterol, total
Title	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele	G
P-val	9E-22
Odds Ratio	0.13 [NR] SD decrease

GWAS snp
PMID	[PMID 19060910 ]
Trait	LDL cholesterol
Title	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Risk Allele	G
P-val	2E-12
Odds Ratio	0.16 [0.11-0.20] mmol/l decrease

GWAS snp
PMID	[PMID 20339536 ]
Trait	Response to statin therapy
Title	Genome-wide association of lipid-lowering response to statins in combined study populations
Risk Allele	C
P-val	0.000004
Odds Ratio	None None

[PMID 21087763 ] Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

GWAS snp
PMID	[PMID 21378988]
Trait
Title	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
Risk Allele	T
P-val	6E-10
Odds Ratio	1.1400 [1.09-1.19]

[PMID 18179892 ] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

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

[PMID 19060906 ] Common variants at 30 loci contribute to polygenic dyslipidemia.

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

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

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

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

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

[PMID 19956433 ] Genetics of coronary artery disease: focus on genome-wide association studies.

[PMID 20084173 ] Magnitude of stratification in human populations and impacts on genome wide association studies.

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

[PMID 20570915] Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

[PMID 20835900 ] Genetics of diabetes complications.

[PMID 21242481 ] Genetic risk score and risk of myocardial infarction in Hispanics.

[PMID 21297524 ] The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.

[PMID 22152955 ] Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.

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

[PMID 24622110 ] Multi-Ancestral Analysis of Inflammation-Related Genetic Variants and C-Reactive Protein in the Population Architecture using Genomics and Epidemiology (PAGE) Study

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

[PMID 23100282 ] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

[PMID 23398167] Reduced serum progranulin level might be associated with Parkinson's disease risk.

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	2E-53
Odds Ratio	5.21 [NR] unit decrease

[PMID 27329260 ] Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

[PMID 29356453 ] Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes.

[PMID 33296721 ] Quantile-specific heritability of total cholesterol and its pharmacogenetic and nutrigenetic implications.