Have questions? Visit https://www.reddit.com/r/SNPedia

rs2230500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.4x increased risk for stroke
(A;G) 1.4x increased risk for stroke
(G;G) 0 normal risk
ReferenceGRCh38 38.1/141
Chromosome14
Position61457521
GenePRKCH
is asnp
is mentioned by
dbSNPrs2230500
ebirs2230500
HLIrs2230500
Exacrs2230500
Varsomers2230500
Maprs2230500
PheGenIrs2230500
hapmaprs2230500
1000 genomesrs2230500
hgdprs2230500
ensemblrs2230500
gopubmedrs2230500
geneviewrs2230500
scholarrs2230500
googlers2230500
pharmgkbrs2230500
gwascentralrs2230500
openSNPrs2230500
23andMers2230500
23andMe allrs2230500
SNP Nexus

SNPshotrs2230500
SNPdbers2230500
MSV3drs2230500
GWAS Ctlgrs2230500
GMAF0.0629
Max Magnitude0
? (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

OMIM605437
DescPROTEIN KINASE C, ETA; PRKCH
Variant
Relatedalso


[PMID 20602195] PRKCH gene polymorphism is associated with the risk of severe gastric atrophy

OMIM605437
Desc
Variant0001
Relatedalso


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
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.


GET Evidence
PRKCH-V374I
aa_change Val374Ile
aa_change_short V374I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00632088
summary