rs2230500
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.4x increased risk for stroke | |
| (A;G) | 1.4x increased risk for stroke | |
| (G;G) | 0 | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 61457521 |
| Gene | PRKCH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230500 |
| dbSNP (classic) | rs2230500 |
| ClinGen | rs2230500 |
| ebi | rs2230500 |
| HLI | rs2230500 |
| Exac | rs2230500 |
| Gnomad | rs2230500 |
| Varsome | rs2230500 |
| LitVar | rs2230500 |
| Map | rs2230500 |
| PheGenI | rs2230500 |
| Biobank | rs2230500 |
| 1000 genomes | rs2230500 |
| hgdp | rs2230500 |
| ensembl | rs2230500 |
| geneview | rs2230500 |
| scholar | rs2230500 |
| rs2230500 | |
| pharmgkb | rs2230500 |
| gwascentral | rs2230500 |
| openSNP | rs2230500 |
| 23andMe | rs2230500 |
| SNPshot | rs2230500 |
| SNPdbe | rs2230500 |
| MSV3d | rs2230500 |
| GWAS Ctlg | rs2230500 |
| GMAF | 0.0629 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
A common SNP only in Asian populations, this SNP (also known as 1425G/A) and a close neighbor also in the PRKCH gene, rs3783799, have been associated with higher risk for subcortical silent brain infarction, a common form of stroke.
In one study of ~1100 Japanese stroke patients, the odds ratio for carriers of the rs2230500(A) risk allele was reported as 1.40 (CI: 1.23-1.59, p=5x10e-7).[PMID 17206144]
A subsequent study reported the odds ratio for carriers of the (A) allele as 1.27 (CI: 1.09-1.48, p=0.0026) compared to individuals homozygous for rs2230500(G), based on studies of ~300 Japanese patients. [PMID 18164711]
[PMID 19069168] rs2230500 (V374I) and rs9943582 were significantly associated with stroke
[PMID 19520989] The 1425G/A SNP in PRKCH Is Associated With Ischemic Stroke and Cerebral Hemorrhage in a Chinese Population
[PMID 20602195] PRKCH gene polymorphism is associated with the risk of severe gastric atrophy
| ClinVar | |
|---|---|
| Risk | Rs2230500(A;A) |
| Alt | Rs2230500(A;A) |
| Reference | Rs2230500(G;G) |
| Significance | Other |
| Disease | Cerebral infarction |
| Variation | info |
| Gene | PRKCH |
| CLNDBN | Cerebral infarction, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000014.8:g.61924239G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005279.2, |
[PMID 17195206] Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population.
[PMID 19703523] Association of PRKCH gene with lacunar infarction in a local Chinese Han population.
[PMID 21358133] Genome-wide association study for ischemic stroke based on the hisayama study.
