rs1333040
| rs1333040 associated with increased risk of myocardial infarction and intracranial aneurysm. |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;T) | 0 | 1.24x increased myocardial infarction risk, ~1.24x increased intracranial aneurysm risk |
| (T;T) | 1.52x increased myocardial infarction risk, ~1.54x increased intracranial aneurysm risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 22083405 |
| Gene | CDKN2B-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1333040 |
| dbSNP (classic) | rs1333040 |
| ClinGen | rs1333040 |
| ebi | rs1333040 |
| HLI | rs1333040 |
| Exac | rs1333040 |
| Gnomad | rs1333040 |
| Varsome | rs1333040 |
| LitVar | rs1333040 |
| Map | rs1333040 |
| PheGenI | rs1333040 |
| Biobank | rs1333040 |
| 1000 genomes | rs1333040 |
| hgdp | rs1333040 |
| ensembl | rs1333040 |
| geneview | rs1333040 |
| scholar | rs1333040 |
| rs1333040 | |
| pharmgkb | rs1333040 |
| gwascentral | rs1333040 |
| openSNP | rs1333040 |
| 23andMe | rs1333040 |
| SNPshot | rs1333040 |
| SNPdbe | rs1333040 |
| MSV3d | rs1333040 |
| GWAS Ctlg | rs1333040 |
| GMAF | 0.3783 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
A meta-analysis of 116,000 individuals reported an association between rs1333040 and intracranial aneuryms (OR 1.24; 95% CI 1.20–1.29). See PMC3716358
[PMID 17478679] A common variant on chromosome 9p21 affects the risk of myocardial infarction, and is further discussed in this blog post
- rs700651 2 G 1.18x risk 1.56x risk
- rs10958409 8 A 1.37x risk 1.79x risk
- rs1333040 9 T 1.29x risk 1.67x risk
| GWAS snp | |
|---|---|
| PMID | [PMID 18997786 ]
|
| Trait | Intracranial aneurysm |
| Title | Susceptibility loci for intracranial aneurysm in European and Japanese populations |
| Risk Allele | T |
| P-val | 1E-10 |
| Odds Ratio | 1.29 [1.19-1.40] |
[PMID 19926059] No association of chromosome 9p21.3 variation with clinical and angiographic outcomes after placement of drug-eluting stents
[PMID 20190001] The Relationship Between Smoking and Replicated Sequence Variants on Chromosomes 8 and 9 With Familial Intracranial Aneurysm
| GWAS snp | |
|---|---|
| PMID | [PMID 20364137]
|
| Trait | Intracranial aneurysm |
| Title | Genome-wide association study of intracranial aneurysm identifies three new risk loci |
| Risk Allele | T |
| P-val | 2E-22 |
| Odds Ratio | 1.32 [1.25-1.39] |
[PMID 21152093] Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis
[PMID 21315566] Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis
[PMID 21375403] 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 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 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
[PMID 18620593] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
[PMID 18987759] Genetic testing for atherosclerosis risk: inevitability or pipe dream?
[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19475673] Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.
[PMID 20386740] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
[PMID 20395613] Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.
[PMID 20595659] Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution.
[PMID 21415773] Chromosome 9p21 genetic variants are associated with myocardial infarction but not with ischemic stroke in a Taiwanese population.
[PMID 21757122] Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction.
[PMID 21896860] Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.
[PMID 22899653] Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls
[PMID 23606732] Association between the rs1333040 polymorphism on the chromosomal 9p21 locus and sporadic brain arteriovenous malformations
[PMID 22476622] Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case-control study in China.
[PMID 22882272] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.
[PMID 23733552] Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
[PMID 24820060] Association between Polymorphisms rs1333040 and rs7865618 of Chromosome 9p21 and Sporadic Brain Arteriovenous Malformations
[PMID 26186006] Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal
[PMID 26597055] Association Study of rs1333040 and rs1004638 Polymorphisms in the 9p21 Locus with Coronary Artery Disease in Southwest of Iran.
[PMID 29228923] CDKN2BAS gene polymorphisms and the risk of intracranial aneurysm in the Chinese population.
[PMID 33285697] The association of CDKN2BAS gene polymorphisms and intracranial aneurysm: A meta-analysis.
