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rs501120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 common, but >1.3x increased risk for heart disease
(A;G) 1.3 1.3x increased risk for heart disease
(C;C) 0
(G;G) normal
ReferenceGRCh38 38.1/142
Chromosome10
Position44258419
is asnp
is mentioned by
dbSNPrs501120
ebirs501120
HLIrs501120
Exacrs501120
Varsomers501120
Maprs501120
PheGenIrs501120
hapmaprs501120
1000 genomesrs501120
hgdprs501120
ensemblrs501120
gopubmedrs501120
geneviewrs501120
scholarrs501120
googlers501120
pharmgkbrs501120
gwascentralrs501120
openSNPrs501120
23andMers501120
23andMe allrs501120
SNP Nexus

SNPshotrs501120
SNPdbers501120
MSV3drs501120
GWAS Ctlgrs501120
GMAF0.2833
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28
rs501120 is a SNP found to be associated with heart disease in two populations by the German MI (Myocardial infarction) Family Study group. The risk allele in dbSNP orientation is rs501120(A). The odds ratio per allele is 1.33 (CI: 1.20-1.48, adjusted p=0.0248).[PMID 17634449OA-icon.png]


[PMID 23666823] Genetic variants on chromosome 10q11.21 are associated with ischemic stroke in the northern Chinese Han population.

[PMID 23202125OA-icon.png] Large-scale association analysis identifies new risk loci for coronary artery disease.

[PMID 22386691] Lack of association between the CXCL12 rs501120 polymorphism and cardiovascular disease in Spanish patients with rheumatoid arthritis.

[PMID 22042884OA-icon.png] Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.

[PMID 21804106OA-icon.png] Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

[PMID 21415067OA-icon.png] The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels

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

[PMID 20847302] Coronary artery disease-related genetic variant on chromosome 10q11 is associated with carotid intima-media thickness and atherosclerosis.

[PMID 20694560] Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans

[PMID 20098575OA-icon.png] Genetics and cardiovascular disease: Design and development of a DNA biobank.

[PMID 20017983OA-icon.png] Evaluation of population impact of candidate polymorphisms for coronary heart disease in the Framingham Heart Study Offspring Cohort.

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

[PMID 19955471OA-icon.png] Genetic Variants Identified in a European Genome-Wide Association Study That Were Found to Predict Incident Coronary Heart Disease in the Atherosclerosis Risk in Communities Study

[PMID 19750184OA-icon.png] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.

[PMID 19164808OA-icon.png] Large scale association analysis of novel genetic loci for coronary artery disease

[PMID 18979498OA-icon.png] The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts.

[PMID 18780302OA-icon.png] Association studies of 22 candidate SNPs with late-onset Alzheimer's disease.

GWAS snp
PMID [PMID 17634449OA-icon.png]
Trait Coronary heart disease
Title Genomewide association analysis of coronary artery disease.
Risk Allele T
P-val 9E-8
Odds Ratio 1.33 [1.20-1.48]
GWAS snp
PMID [PMID 24262325OA-icon.png]
Trait Coronary artery disease
Title Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Risk Allele C
P-val 2E-6
Odds Ratio 1.09 [1.05-1.14]


GET Evidence
rs501120
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.335938
summary