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rs1333040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 0 1.24x increased myocardial infarction risk, 1.29x increased aneurysm risk
(T;T) 1.52x increased myocardial infarction risk, 1.67x increased aneurysm risk
ReferenceGRCh38 38.1/141
Chromosome9
Position22083405
GeneCDKN2B-AS1
is asnp
is mentioned by
dbSNPrs1333040
ebirs1333040
HLIrs1333040
Exacrs1333040
Varsomers1333040
Maprs1333040
PheGenIrs1333040
hapmaprs1333040
1000 genomesrs1333040
hgdprs1333040
ensemblrs1333040
gopubmedrs1333040
geneviewrs1333040
scholarrs1333040
googlers1333040
pharmgkbrs1333040
gwascentralrs1333040
openSNPrs1333040
23andMers1333040
23andMe allrs1333040
SNP Nexus

SNPshotrs1333040
SNPdbers1333040
MSV3drs1333040
GWAS Ctlgrs1333040
GMAF0.3783
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 17478679] A common variant on chromosome 9p21 affects the risk of myocardial infarction, and is further discussed in this blog post

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
Neighborrs10116277
Distance2007
GWAS snp
PMID [PMID 18997786OA-icon.png]
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]
OMIM611892
DescANEURYSM, INTRACRANIAL BERRY, 6
Variant
Relatedalso



[PMID 19926059] No association of chromosome 9p21.3 variation with clinical and angiographic outcomes after placement of drug-eluting stents


[PMID 20190001OA-icon.png] The Relationship Between Smoking and Replicated Sequence Variants on Chromosomes 8 and 9 With Familial Intracranial Aneurysm

GWAS snp
PMID [PMID 20364137OA-icon.png]
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 21152093OA-icon.png] Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis


[PMID 21315566] Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis


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


[PMID 18469204OA-icon.png] 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 18620593OA-icon.png] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.


[PMID 18987759OA-icon.png] 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 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


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


[PMID 20386740OA-icon.png] 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.


GET Evidence
rs1333040
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.617188
summary



Brain Aneurysm


[PMID 22899653OA-icon.png] 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 22882272OA-icon.png] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.


[PMID 23733552OA-icon.png] 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 26186006OA-icon.png] 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.