{{Rsnum
|rsid=646776
|Gene=CELSR2
|Chromosome=1
|position=109275908
|Orientation=minus
|GMAF=0.2121
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CELSR2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 54.9 | 38.1 | 7.1
| HCB | 93.4 | 6.6 | 0.0
| JPT | 85.8 | 12.4 | 1.8
| YRI | 44.8 | 48.3 | 6.9
| ASW | 26.3 | 61.4 | 12.3
| CHB | 93.4 | 6.6 | 0.0
| CHD | 93.5 | 4.6 | 1.9
| GIH | 56.4 | 33.7 | 9.9
| LWK | 20.9 | 55.5 | 23.6
| MEX | 70.7 | 24.1 | 5.2
| MKK | 44.9 | 46.2 | 9.0
| TSI | 62.4 | 31.7 | 5.9
| HapMapRevision=28
}}
{{PMID|18262040|OA=1
}} [[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.

[http://blog.23andme.com/2009/02/09/snpwatch-five-new-studies-identify-genetic-variations-associated-with-coronary-artery-disease-and-heart-attack/ 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 Summary
|SNP=rs646776
|PubMedID=18193044
|Condition=LDL cholesterol
|Gene=CELSR2,PSRC1,SORT1
|Risk Allele=C
|pValue=3.00E-029
|OR=0.16
|95CI=0.14-0.18) % SD lowe
|OA=1
}}
{{PMID Auto
|PMID=19380133
|Title=Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis
}}

{{PMID Auto GWAS
|PMID=19198609
|Trait=Myocardial infarction (early onset)
|Title=Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
|RiskAllele=T
|Pval=8E-12
|OR=1.19
|ORtxt=[1.13-1.26]
|OA=1
}}
{{PMID Auto GWAS
|PMID=19060911
|Trait=Cholesterol, total
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|RiskAllele=G
|Pval=9E-22
|OR=0.13
|ORtxt=[NR] SD decrease
|OA=1
}}
{{PMID Auto GWAS
|PMID=19060910
|Trait=LDL cholesterol
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
|RiskAllele=G
|Pval=2E-12
|OR=0.16
|ORtxt=[0.11-0.20] mmol/l decrease
|OA=1
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19802338
|Annotation=Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of apolipoprotein B and LDL-C . Study size:6382. Study population/ethnicity: Caucasian women. Significance metric(s): ApoB:P value:3.5 x 10(-24) ,LDL-C: 4.9 x 10(-19). Type of association: CO; GN
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165111806
}}

{{PMID Auto GWAS
|PMID=20339536
|Trait=Response to statin therapy
|Title=Genome-wide association of lipid-lowering response to statins in combined study populations
|RiskAllele=C
|Pval=0.000004
|OR=None
|ORtxt=None
|OA=1
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:18193044; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (Initial Sample Size: 2,758 individuals; Replication Sample Size: 18,544 individuals; Risk Allele: rs646776-C). This variant is associated with LDL levels.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases; Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356722
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19198609
|Annotation=In a genome-wide association study this variant (rs646776) near CELSR2-PSRC1-SORT1 was associated with with early-onset myocardial infarction in 2,967 cases and 3,075 controls.
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA162565802
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19198609; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (Initial Sample Size: 2,967 cases, 3,075 controls; Replication Sample Size: 9,746 cases, 9,746 controls); (Region: 1p13.3; Reported Gene(s): CELSR2, PSRC1, SORT1; Risk Allele: rs646776-T); (p-value= 0.000000000008).This variant is associated with Myocardial infarction (early onset).
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739965
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19060910; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (Initial Sample Size: 4,763 individuals; Replication Sample Size: NR); (Region: 1p13.3; Reported Gene(s): CELSR2, PSRC1, SORT1; Risk Allele: rs646776-G); (p-value= 0.000000000002).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740275
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 22,562 individuals; Replication Sample Size: NR); (Region: 1p13.3; Reported Gene(s): CELSR2; Risk Allele: rs646776-G); (p-value= 9E-22).This variant is associated with Cholesterol, total.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740201
}}

{{PharmGKB
|RSID=rs646776
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 1p13.3; Reported Gene(s): CELSR2; Risk Allele: rs646776-G); (p-value= 8E-23).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740221
}}
{{PMID Auto
|PMID=21087763
|Title=Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma
|OA=1
}}

{{PMID Auto GWAS
|PMID=21378988
|Trait=None
|Title=A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
|RiskAllele=T
|Pval=6E-10
|OR=1.1400
|ORtxt=[1.09-1.19]
}}

{{PMID Auto
|PMID=18179892
|Title=Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
|OA=1
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=19060906
|Title=Common variants at 30 loci contribute to polygenic dyslipidemia.
|OA=1
}}

{{PMID Auto
|PMID=19185284
|Title=Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19299407
|Title=Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
|OA=1
}}

{{PMID Auto
|PMID=19435741
|Title=Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
|OA=1
}}

{{PMID Auto
|PMID=19679263
|Title=Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
|OA=1
}}

{{PMID Auto
|PMID=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=19956433
|Title=Genetics of coronary artery disease: focus on genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20084173
|Title=Magnitude of stratification in human populations and impacts on genome wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20502693
|Title=Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=20570915
|Title=Genetic determinants of major blood lipids in Pakistanis compared with Europeans.
}}

{{PMID Auto
|PMID=20832063
|Title=Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
}}

{{PMID Auto
|PMID=20835900
|Title=Genetics of diabetes complications.
|OA=1
}}

{{PMID Auto
|PMID=21242481
|Title=Genetic risk score and risk of myocardial infarction in Hispanics.
|OA=1
}}

{{PMID Auto
|PMID=21297524
|Title=The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.
|OA=1
}}

{{PMID Auto
|PMID=22152955
|Title=Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs646776
|overall_frequency_n=100
|overall_frequency_d=128
|overall_frequency=0.78125
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=85
|n_articles=2
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23098650
|Title=Impact of variants within seven candidate genes on statin treatment efficacy
}}

{{PMID Auto
|PMID=24622110
|Title=Multi-Ancestral Analysis of Inflammation-Related Genetic Variants and C-Reactive Protein in the Population Architecture using Genomics and Epidemiology (PAGE) Study
}}

{{PMID Auto
|PMID=23092954
|Title=SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
|OA=1
}}

{{PMID Auto
|PMID=23100282
|Title=Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
|OA=1
}}

{{PMID Auto
|PMID=23398167
|Title=Reduced serum progranulin level might be associated with Parkinson's disease risk.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}