rs1063192
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 22003368 |
| Gene | CDKN2B, CDKN2B-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1063192 |
| dbSNP (classic) | rs1063192 |
| ClinGen | rs1063192 |
| ebi | rs1063192 |
| HLI | rs1063192 |
| Exac | rs1063192 |
| Gnomad | rs1063192 |
| Varsome | rs1063192 |
| LitVar | rs1063192 |
| Map | rs1063192 |
| PheGenI | rs1063192 |
| Biobank | rs1063192 |
| 1000 genomes | rs1063192 |
| hgdp | rs1063192 |
| ensembl | rs1063192 |
| geneview | rs1063192 |
| scholar | rs1063192 |
| rs1063192 | |
| pharmgkb | rs1063192 |
| gwascentral | rs1063192 |
| openSNP | rs1063192 |
| 23andMe | rs1063192 |
| SNPshot | rs1063192 |
| SNPdbe | rs1063192 |
| MSV3d | rs1063192 |
| GWAS Ctlg | rs1063192 |
| GMAF | 0.236 |
| Max Magnitude | 1.5 |
| ? | (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]
[PMID 19559344] Genetic variants on chromosome 9p21 and ischemic stroke in Chinese
| GWAS snp | |
|---|---|
| PMID | [PMID 20548946 ]
|
| 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 21398277] 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 22761751] 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 17459456] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
[PMID 18174243] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.
[PMID 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
[PMID 19578366] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
[PMID 20386740] 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.
[PMID 29228923] CDKN2BAS gene polymorphisms and the risk of intracranial aneurysm in the Chinese population.
[PMID 30774116] Functional Genetic Single-Nucleotide Polymorphisms (SNPs) in Cyclin-Dependent Kinase Inhibitor 2A/B (CDKN2A/B) Locus Are Associated with Risk and Prognosis of Osteosarcoma in Chinese Populations.
[PMID 32933932] Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK study.
[PMID 32293292] Susceptible gene polymorphism in patients with three-vessel coronary artery disease.
