From SNPedia
rs4673, also known as C242T or H72Y, is a SNP in the NAD(P)H oxidase p22(phox) subunit
CYBA gene.
A study of German patients with ischemic stroke or transient ischemic attack under the age of 50 (n = 161) concluded that rs4673(T;T) individuals were almost 4 times more likely to experience cerebral ischemia (odds ratio 3.85, CI: 1.39-10.64) compared to rs4673(C;T) or (C;C) individuals after adjusting for classical risk factors.[PMID 18799874]
[PMID 20100625] A meta-analysis concluded that the T allele effect may vary between ethnicities in both direction of effect and significance; Asian populations may have reduced coronary artery disease risk associated with the T allele.
| ? | (C;C) (C;T) (T;T) |
|---|
 |
| Venter snp
|
| Source
| plos
|
| Gene
| CYBA
|
| allele
| G
|
| frequency
| 0.342
|
| sift
|
|
| HuRef
| 1103645550463
|
| Disease Association
| Defects in CYBA are a cause of autosomal recessive chronic granulomatous disease (AR-CGD) (MIM:233690). AR-CGD is characterized by the failure of activated phagocytes to generate superoxide.
|
