{{Rsnum
|rsid=12740374
|Gene=CELSR2
|Chromosome=1
|position=109274968
|Orientation=plus
|GMAF=0.1864
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=CELSR2
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 50.8 | 39.7 | 9.5
| HCB | 97.8 | 2.2 | 0.0
| JPT | 88.9 | 8.9 | 2.2
| YRI | 66.7 | 31.7 | 1.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 97.8 | 2.2 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PMID Auto GWAS
|PMID=19060906
|Trait=LDL cholesterol
|Title=Common variants at 30 loci contribute to polygenic dyslipidemia
|RiskAllele=T
|Pval=2E-42
|OR=0.23
|ORtxt=[0.19-0.27] SD decrease
|OA=1
}}

{{PharmGKB
|RSID=rs12740374
|Name_s=
|Gene_s=CELSR2
|Feature=
|Evidence=PubMed ID:19060906; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Common variants at 30 loci contribute to polygenic dyslipidemia. (Initial Sample Size: 19,840 individuals; Replication Sample Size: Up to 20,623 individuals); (Region: 1p13.3; Reported Gene(s): CELSR2, PSRC1, SORT1; Risk Allele: rs12740374-T); (p-value= 2E-42).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740257
}}

{{PMID Auto
|PMID=20686566
|Title=From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
|OA=1
}}

{{omim
|id=602458
|desc=SORTILIN; SORT1
|rsnum=12740374
}}

{{omim
|id=602458
|rsnum=12740374
|variant=0001
}}

{{PMID Auto GWAS
|PMID=21347282
|Trait=None
|Title=Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project
|RiskAllele=G
|Pval=9E-29
|OR=0.1815
|ORtxt=[0.15-0.21] SD decrease
|OA=1
}}

{{PMID Auto
|PMID=22539988
|Title=Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study
|OA=1
}}

{{PMID Auto
|PMID=18262040
|Title=LDL-cholesterol concentrations: 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=19822575
|Title=Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.
|OA=1
}}

{{PMID Auto
|PMID=19913121
|Title=Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
|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
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12740374
|overall_frequency_n=23
|overall_frequency_d=128
|overall_frequency=0.179688
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23118302
  |Trait=Lipoprotein-associated phospholipase A2 activity and mass
  |Title=Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
  |RiskAllele=T
  |Pval=2E-22
  |OR=.03
  |ORtxt=[0.027-0.042] ng/ml decrease
  }}

{{PMID Auto
|PMID=24059109
|Title=[Association between SNP rs12740374 and acute ischemic stroke in Chinese Han population]
}}

{{PMID Auto
|PMID=23723249
|Title=GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.
|OA=1
}}

{{PMID Auto
|PMID=24922790
|Title=214 Generation of Isogenic Cell Lines to Study a Single Disease Associated Variant at the 1P13 Cad Risk Locus
}}

{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000007497.1
|CLNALLE=1
|CLNDBN=Low density lipoprotein cholesterol level quantitative trait locus 6
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3150834:613589
|CLNHGVS=NC_000001.11:g.109274968G>T
|CLNORIGIN=1
|CLNSIG=255
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001408.2:c.*919G>T; 602458.0001
|Disease=Low density lipoprotein cholesterol level quantitative trait locus 6
|FwdALT=T
|FwdREF=G
|GENEINFO=CELSR2:1952
|GENE_ID=1952
|GENE_NAME=CELSR2
|REF=G
|RSPOS=109274968
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;U3;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;MTP;OM
|VC=SNV
|VP=0x05016880000515051f030100
|WGT=1
|dbSNPBuildID=121
|rsid=12740374
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}