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rs1063192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.5 0.71x reduced risk of myocardial infarction
(C;T) 1.5 0.71x reduced risk of myocardial infarction
(T;T) 1 Normal risk of myocardial infarction
ReferenceGRCh38 38.1/141
Chromosome9
Position22003368
GeneCDKN2B, CDKN2B-AS1
is asnp
is mentioned by
dbSNPrs1063192
ebirs1063192
HLIrs1063192
Exacrs1063192
Varsomers1063192
Maprs1063192
PheGenIrs1063192
hapmaprs1063192
1000 genomesrs1063192
hgdprs1063192
ensemblrs1063192
gopubmedrs1063192
geneviewrs1063192
scholarrs1063192
googlers1063192
pharmgkbrs1063192
gwascentralrs1063192
openSNPrs1063192
23andMers1063192
23andMe allrs1063192
SNP Nexus

SNPshotrs1063192
SNPdbers1063192
MSV3drs1063192
GWAS Ctlgrs1063192
GMAF0.236
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28
rs1063192 is a SNP in the cyclin-dependent kinase inhibitor 2B CDKN2B gene.

A study of 432 Han Chinese patients with myocardial infarctions concluded that male subjects carrying a rs1063192(C) allele were at 0.71x decreased risk (for MI).[PMID 19272367]

Myocardial Infarction


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

GWAS snp
PMID [PMID 20548946OA-icon.png]
Trait Vertical cup-disc ratio
Title A genome-wide association study of optic disc parameters
Risk Allele G
P-val 4E-15
Odds Ratio 0.01 [0.010-0.018] mm2 decrease


[PMID 21398277OA-icon.png] Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population


[PMID 22034633] Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1


[PMID 22584021] Association between Genetic Variants Associated with Vertical Cup-to-Disc Ratio and Phenotypic Features of Primary Open-Angle Glaucoma


[PMID 22761751OA-icon.png] CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

GWAS snp
PMID [PMID 22419738]
Trait
Title A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
Risk Allele T
P-val 5E-11
Odds Ratio 1.3300 None


[PMID 17459456OA-icon.png] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.


[PMID 18174243OA-icon.png] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.


[PMID 19258477OA-icon.png] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.


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


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


[PMID 22840486] Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.


[PMID 25239644] Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers


[PMID 25565272] Polymorphisms of cell cycle control genes influence the development of sporadic medullary thyroid carcinoma


[PMID 26014354] CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility


[PMID 27367510] Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma.