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rs646776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.1 1.2x risk of coronary artery disease
Make rs646776(A;G)
Make rs646776(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position109275908
GeneCELSR2
is asnp
is mentioned by
dbSNPrs646776
ebirs646776
HLIrs646776
Exacrs646776
Varsomers646776
Maprs646776
PheGenIrs646776
hapmaprs646776
1000 genomesrs646776
hgdprs646776
ensemblrs646776
gopubmedrs646776
geneviewrs646776
scholarrs646776
googlers646776
pharmgkbrs646776
gwascentralrs646776
openSNPrs646776
23andMers646776
23andMe allrs646776
SNP Nexus

SNPshotrs646776
SNPdbers646776
MSV3drs646776
GWAS Ctlgrs646776
GMAF0.2121
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
[PMID 18262040OA-icon.png] 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.

Pharmacogenetic meta-analysis of genome-wide association studies of LDL ​cholesterol response to statins found each minor allele to increase statin effectiveness by 1.3% (rs646776, β=−0.013, s.e.=0.002, P=1.05 × 10−9 and rs12740374, β=−0.013, s.e.=0.002, P=1.05 × 10−9).

23andMe blog coronary artery disease and heart attack

SNP Risk Version Effect

GWAS
SNP rs646776
PubMedID [PMID 18193044OA-icon.png]
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 19198609OA-icon.png]
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 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 9E-22
Odds Ratio 0.13 [NR] SD decrease
GWAS snp
PMID [PMID 19060910OA-icon.png]
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 20339536OA-icon.png]
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 21087763OA-icon.png] 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 18179892OA-icon.png] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.


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


[PMID 19060906OA-icon.png] Common variants at 30 loci contribute to polygenic dyslipidemia.


[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 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.


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


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


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


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


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


[PMID 20502693OA-icon.png] 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 20835900OA-icon.png] Genetics of diabetes complications.


[PMID 21242481OA-icon.png] Genetic risk score and risk of myocardial infarction in Hispanics.


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


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


GET Evidence
rs646776
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.78125
summary



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


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


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


[PMID 23100282OA-icon.png] 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 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 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.