rs2383207

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Geno	Mag	Summary
(A;A)	0	normal
(A;G)	2	increased risk for heart disease
(G;G)	2.1	increased risk for heart disease

Reference

GRCh38 38.1/141

Chromosome

9

Position

22115960

Gene	CDKN2B-AS1

is a	snp
is	mentioned by
dbSNP	rs2383207
dbSNP (classic)	rs2383207
ClinGen	rs2383207
ebi	rs2383207
HLI	rs2383207
Exac	rs2383207
Gnomad	rs2383207
Varsome	rs2383207
LitVar	rs2383207
Map	rs2383207
PheGenI	rs2383207
Biobank	rs2383207
1000 genomes	rs2383207
hgdp	rs2383207
ensembl	rs2383207
geneview	rs2383207
scholar	rs2383207
google	rs2383207
pharmgkb	rs2383207
gwascentral	rs2383207
openSNP	rs2383207
23andMe	rs2383207
SNPshot	rs2383207
SNPdbe	rs2383207
MSV3d	rs2383207
GWAS Ctlg	rs2383207

GMAF

0.3324

Max Magnitude

2.1

?

(A;A) (A;G) (G;G)

28

discussed in this blog post as possibly playing a role in coronary heart disease

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

The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54).

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

[PMID 18757290] Found to be associated with coronary heart disease in a study of 1360 Chinese Han patients, with an odds ratio of 1.52 (CI: 1.13 - 2.04) for rs2383207(G;G) individuals. This risk was magnified in subjects who were males, less than 60 years old, overweight, or smokers.

OMIM	611139
Desc	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
Variant
Related	also

[PMID 19293724] The myocardial infarction associated CDKN2A/CDKN2B locus on chromosome 9p21 is associated with stroke independently of coronary events in patients with hypertension

[PMID 19901189 ] A Common Variant at 9p21 Is Associated With Sudden and Arrhythmic Cardiac Death

[PMID 20031580] Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study

GWAS snp
PMID	[PMID 20622881 ]
Trait	Abdominal aortic aneurysm
Title	Genome-wide association study identifies a sequence variant with the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
Risk Allele	G
P-val	2E-8
Odds Ratio	1.27 [NR]

[PMID 21152093 ] Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis

[PMID 22122968] Additive Effect of ANRIL and BRAP Polymorphisms on Ankle-Brachial Index in a Taiwanese Population

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

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

[PMID 18459066] A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease.

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

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

[PMID 18704761 ] Molecular genetics of myocardial infarction.

[PMID 18987759 ] Genetic testing for atherosclerosis risk: inevitability or pipe dream?

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

[PMID 19463184 ] Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.

[PMID 19475673 ] Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.

[PMID 19819472 ] Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery.

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

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

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

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

[PMID 20858033] Haplotypes on 9p21 modify the risk for coronary artery disease among Indians.

[PMID 21415773] Chromosome 9p21 genetic variants are associated with myocardial infarction but not with ischemic stroke in a Taiwanese population.

[PMID 23343465 ] Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

[PMID 23535969] Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome

[PMID 22882272 ] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.

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

[PMID 25665551] Chromosome 9p21.3 Variants Are Associated with Cerebral Infarction in Chinese Population

[PMID 26109989 ] The cardiovascular implication of single nucleotide polymorphisms of chromosome 9p21 locus among Arab population

[PMID 26944720] Polymorphisms in the long non-coding RNA CDKN2B-AS1 may contribute to higher systolic blood pressure levels in hypertensive patients.

[PMID 28716248 ] Interleukin-6 (IL-6) rs1800796 and cyclin dependent kinase inhibitor (CDKN2A/CDKN2B) rs2383207 are associated with ischemic stroke in indigenous West African Men.

[PMID 31472045] Common SNP-based haplotype analysis of the 9p21.3 gene locus as predictor coronary artery disease in Tanzanian population.