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rs12740374

From SNPedia

Orientationplus
Stabilizedplus
Make rs12740374(G;G)
Make rs12740374(G;T)
Make rs12740374(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position109274968
GeneCELSR2
is asnp
is mentioned by
dbSNPrs12740374
ebirs12740374
HLIrs12740374
Exacrs12740374
Varsomers12740374
Maprs12740374
PheGenIrs12740374
hapmaprs12740374
1000 genomesrs12740374
hgdprs12740374
ensemblrs12740374
gopubmedrs12740374
geneviewrs12740374
scholarrs12740374
googlers12740374
pharmgkbrs12740374
gwascentralrs12740374
openSNPrs12740374
23andMers12740374
23andMe allrs12740374
SNP Nexus

SNPshotrs12740374
SNPdbers12740374
MSV3drs12740374
GWAS Ctlgrs12740374
GMAF0.1864
Max Magnitude
? (G;G) (G;T) (T;T) 28

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).

GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait LDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele T
P-val 2E-42
Odds Ratio 0.23 [0.19-0.27] SD decrease



[PMID 20686566OA-icon.png] From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

OMIM602458
DescSORTILIN; SORT1
Variant
Relatedalso
OMIM602458
Desc
Variant0001
Relatedalso
GWAS snp
PMID [PMID 21347282OA-icon.png]
Trait
Title Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project
Risk Allele G
P-val 9E-29
Odds Ratio 0.1815 [0.15-0.21] SD decrease


[PMID 22539988OA-icon.png] Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study


[PMID 18262040OA-icon.png] LDL-cholesterol concentrations: a genome-wide association study.


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


[PMID 19822575OA-icon.png] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.


[PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.


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


GET Evidence
rs12740374
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.179688
summary



GWAS snp
PMID [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.
Risk Allele T
P-val 2E-22
Odds Ratio .03 [0.027-0.042] ng/ml decrease


[PMID 24059109] [Association between SNP rs12740374 and acute ischemic stroke in Chinese Han population]


[PMID 23723249OA-icon.png] GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.


[PMID 24922790] 214 Generation of Isogenic Cell Lines to Study a Single Disease Associated Variant at the 1P13 Cad Risk Locus


ClinVar
Risk rs12740374(T;T)
Alt rs12740374(T;T)
Reference rs12740374(G;G)
Significance Other
Disease Low density lipoprotein cholesterol level quantitative trait locus 6
Variation info
Gene CELSR2
CLNDBN Low density lipoprotein cholesterol level quantitative trait locus 6
Reversed 0
HGVS NC_000001.10:g.109817590G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007497.2,