Rs2383206

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Orientationplus
is asnp
is mentioned by
dbSNPrs2383206
PheGenIrs2383206
nextbiors2383206
hapmaprs2383206
1000 genomesrs2383206
hgdprs2383206
ensemblrs2383206
gopubmedrs2383206
geneviewrs2383206
scholarrs2383206
googlers2383206
pharmgkbrs2383206
gwascentralrs2383206
openSNPrs2383206
23andMers2383206
23andMe allrs2383206
SNP Nexus

SNPshotrs2383206
SNPdbers2383206
MSV3drs2383206
GeneCDKN2B-AS1
Chromosome9
Orientationplus
GMAF0.4917
Position22115027
ReferenceGRCh38 38.1/141
Max Magnitude3
Geno Mag Summary
(A;A) normal
(A;G) 2 1.4x increased risk for heart disease
(G;G) 3 1.7x increased risk for heart disease
? (A;A) (A;G) (G;G) 28
rs10757274 and rs2383206 can significantly increase the risk of heart disease[1]. About one in every four Caucasians are thought to carry the variants, and their risk of coronary heart disease is increased by 30 to 40%. rs10757278 in the same region has been linked to diabetes [2]. The chromosomal region where these SNPs are located is 9p21, and has no known genes.

a blog post about investigating rs10757274 and rs2383206

Neighborrs2383207
Distance933

[PMID 18048766] This SNP was also associated with increased risk for coronary artery disease in a Korean population.

[PMID 18066490] Also found to be significant in a study of 416 Italian myocardial infarction patients.

A study of 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206(G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease.[PMID 19033013]

OMIM611139
DescCORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
Variant
Relatedalso

[PMID 19559344] Genetic variants on chromosome 9p21 and ischemic stroke in Chinese


[PMID 20031605] 9p21 is a Shared Susceptibility Locus Strongly for Coronary Artery Disease and Weakly for Ischemic Stroke in Chinese Han Population


[PMID 21375403OA-icon.png] The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women


[PMID 20718794] Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS


[PMID 21385355OA-icon.png] Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry


[PMID 22622453] The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitus


[PMID 18362232OA-icon.png] Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.


[PMID 18443000OA-icon.png] Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.


[PMID 18505420OA-icon.png] Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).


[PMID 18620593OA-icon.png] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.


[PMID 18704761OA-icon.png] Molecular genetics of myocardial infarction.


[PMID 18757290] Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population.


[PMID 18957718OA-icon.png] Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.


[PMID 18987759OA-icon.png] Genetic testing for atherosclerosis risk: inevitability or pipe dream?


[PMID 19033589OA-icon.png] Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes.


[PMID 19173706OA-icon.png] The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis.


[PMID 19329499OA-icon.png] A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19578366OA-icon.png] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.


[PMID 19888323OA-icon.png] Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants.


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


[PMID 19956784OA-icon.png] Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease.


[PMID 20386740OA-icon.png] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 23086272] Association between 9p21.3 genomic markers and coronary artery disease in East Asians: a meta-analysis involving 9,813 cases and 10,710 controls


[PMID 23134948OA-icon.png] Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15)


[PMID 23388737] Association of Single Nucleotide Polymorphisms on Chromosome 9p21.3 With Cardiovascular Death in Kidney Transplant Recipients


[PMID 22975211] Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.