{{Rsnum
|rsid=1333040
|Gene=CDKN2BAS
|Chromosome=9
|position=22083405
|Orientation=plus
|GMAF=0.3783
|Gene_s=CDKN2B-AS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 19.5 | 49.6 | 31.0
| HCB | 10.2 | 48.2 | 41.6
| JPT | 9.7 | 38.9 | 51.3
| YRI | 7.5 | 51.7 | 40.8
| ASW | 10.5 | 56.1 | 33.3
| CHB | 10.2 | 48.2 | 41.6
| CHD | 10.1 | 38.5 | 51.4
| GIH | 19.8 | 51.5 | 28.7
| LWK | 15.5 | 43.6 | 40.9
| MEX | 19.0 | 51.7 | 29.3
| MKK | 15.4 | 47.4 | 37.2
| TSI | 9.8 | 50.0 | 40.2
| HapMapRevision=28
}}{{PMID|17478679}} A common variant on chromosome 9p21 affects the risk of [[myocardial infarction]], and is further discussed in this [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post]

[http://blog.23andme.com/2008/11/10/snpwatch-study-finds-genetic-links-to-brain-aneurysm-in-both-japanese-and-european-populations/ 23andMe blog] [[aneurysm]]

*[[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

{{ neighbor
| rsid = 10116277
| distance = 2007
}}

{{PMID Auto GWAS
|PMID=18997786
|Trait=Intracranial aneurysm
|Title=Susceptibility loci for intracranial aneurysm in European and Japanese populations
|RiskAllele=T
|Pval=1E-10
|OR=1.29
|ORtxt=[1.19-1.40]
|OA=1
}}

{{omim
|desc=ANEURYSM, INTRACRANIAL BERRY, 6
|id=611892
|rsnum=1333040
}}

{{PharmGKB
|RSID=rs1333040
|Name_s=
|Gene_s=CDKN2BAS
|Feature=
|Evidence=PubMed ID:18997786; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Susceptibility loci for intracranial aneurysm in European and Japanese populations. (Initial Sample Size: 1,580 European cases, 6,276 European controls; Replication Sample Size: 495 Japanese cases, 676 Japanese controls); (Region: 9q21.3; Reported Gene(s): CDKN2A, CDKN2B; Risk Allele: rs1333040-T); (p-value= 0.0000000001).This variant is associated with Intracranial aneurysm.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740744
}}

{{PMID Auto
|PMID=19926059
|Title=No association of chromosome 9p21.3 variation with clinical and angiographic outcomes after placement of drug-eluting stents
}}

{{PMID Auto
|PMID=20190001
|Title=The Relationship Between Smoking and Replicated Sequence Variants on Chromosomes 8 and 9 With Familial Intracranial Aneurysm
|OA=1
}}

{{PMID Auto GWAS
|PMID=20364137
|Trait=Intracranial aneurysm
|Title=Genome-wide association study of intracranial aneurysm identifies three new risk loci
|RiskAllele=T
|Pval=2E-22
|OR=1.32
|ORtxt=[1.25-1.39]
|OA=1
}}
{{PMID Auto
|PMID=21152093
|Title=Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis
|OA=1
}}

{{PMID Auto
|PMID=21315566
|Title=Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis
}}

{{PMID Auto
|PMID=21375403
|Title=The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women
|OA=1
}}

{{PMID Auto
|PMID=20718794
|Title=Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS
}}

{{PMID Auto
|PMID=21385355
|Title=Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry
|OA=1
}}

{{PMID Auto
|PMID=18362232
|Title=Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=18469204
|Title=Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
|OA=1
}}

{{PMID Auto
|PMID=18620593
|Title=Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
|OA=1
}}

{{PMID Auto
|PMID=18987759
|Title=Genetic testing for atherosclerosis risk: inevitability or pipe dream?
|OA=1
}}

{{PMID Auto
|PMID=19002430
|Title=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 Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19475673
|Title=Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.
|OA=1
}}

{{PMID Auto
|PMID=20386740
|Title=Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
|OA=1
}}

{{PMID Auto
|PMID=20395613
|Title=Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.
}}

{{PMID Auto
|PMID=20595659
|Title=Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution.
}}

{{PMID Auto
|PMID=21415773
|Title=Chromosome 9p21 genetic variants are associated with myocardial infarction but not with ischemic stroke in a Taiwanese population.
}}

{{PMID Auto
|PMID=21757122
|Title=Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction.
}}

{{PMID Auto
|PMID=21896860
|Title=Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1333040
|overall_frequency_n=79
|overall_frequency_d=128
|overall_frequency=0.617188
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Brain Aneurysm]]

{{PMID Auto
|PMID=22899653
|Title=Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls
|OA=1
}}

{{PMID Auto
|PMID=23606732
|Title=Association between the rs1333040 polymorphism on the chromosomal 9p21 locus and sporadic brain arteriovenous malformations
}}

{{PMID Auto
|PMID=22476622
|Title=Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case-control study in China.
}}

{{PMID Auto
|PMID=22882272
|Title=Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.
|OA=1
}}

{{PMID Auto
|PMID=23733552
|Title=Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
|OA=1
}}

{{PMID Auto
|PMID=24820060
|Title=Association between Polymorphisms rs1333040 and rs7865618 of Chromosome 9p21 and Sporadic Brain Arteriovenous Malformations
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}