{{Rsnum
|rsid=4673
|Gene=CYBA
|Chromosome=16
|position=88646828
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3026
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CYBA
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 46.9 | 43.4 | 9.7
| HCB | 83.2 | 16.8 | 0.0
| JPT | 87.6 | 12.4 | 0.0
| YRI | 17.7 | 54.4 | 27.9
| ASW | 24.6 | 47.4 | 28.1
| CHB | 83.2 | 16.8 | 0.0
| CHD | 86.2 | 11.9 | 1.8
| GIH | 41.6 | 44.6 | 13.9
| LWK | 28.2 | 47.3 | 24.5
| MEX | 48.3 | 44.8 | 6.9
| MKK | 25.0 | 47.4 | 27.6
| TSI | 28.4 | 52.0 | 19.6
| HapMapRevision=28
}}
[[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.

{{omim
|desc=CYBA POLYMORPHISM 242C-T
|id=608508
|rsnum=4673
|variant=0008
}}

{{Venter SNP
|rsid=4673
|allele=G
|frequency=0.342
|uid=1103645550463
|type=heterozygous_SNP
|hugo=CYBA
|ensembl gene=ENSG00000051523
|ensembl transcript=ENST00000261623
|sift=
|disease=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.
}}

{{PharmGKB
|RSID=rs4673
|Name_s=His72Tyr polymorphism in the p22phox subunit
|Gene_s=CYBA
|Feature=
|Evidence=PubMed ID:16330681
|Annotation=Risk or phenotype-associated allele: T. Phenotype: This SNP was associated with acute cardiotoxicity in response to doxorubicin. Study size: 1697. Study population/ethnicity: Participants of the German non-Hodgkin lymphoma study. Significance metric(s): OR = 2.0; 95% CI, 1.0 to 3.9. Type of association: PD; ADR; TOX.
|Drugs=doxorubicin
|Drug Classes=
|Diseases=Arrhythmias, Cardiac; Cardiomyopathies; Drug Toxicity; Lymphoma, Non-Hodgkin
|Curation Level=Curated
|PharmGKB Accession ID=PA165291816
}}

{{PMID Auto
|PMID=21963893
|Title=Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population
}}

{{PMID Auto
|PMID=22011848
|Title=Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels
}}

{{PMID Auto
|PMID=22410402
|Title=Association between rs4673 (C/T) and rs13306294 (A/G) haplotypes of NAD(P)H oxidase p22phox gene and severity of stenosis in coronary arteries.
}}

{{ClinVar
|rsid=4673
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=88713236
|CHROM=16
|GMAF=0.3027
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05016800000017051f110101
|GENEINFO=CYBA:1535
|GENE_NAME=CYBA
|GENE_ID=1535
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.88713236A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.3026; 0.6974
|CLNACC=RCV000002351.1
|CLNDBN=CYBA POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608508.0008
|COMMON=1
|Disease=CYBA POLYMORPHISM
}}

{{PMID|16608528|OA=1
}} Genetic polymorphisms and susceptibility to lung disease.

{{PMID|17825092|OA=1
}} Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.

{{PMID|18182569|OA=1
}} Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

{{PMID|19379518|OA=1
}} Development of a fingerprinting panel using medically relevant polymorphisms.

{{PMID|19448608}} Analysis of the host pharmacogenetic background for prediction of outcome and toxicity in diffuse large B-cell lymphoma treated with R-CHOP21.

{{PMID|20565774|OA=1
}} Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

{{PMID|21902598|OA=1
}} Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?

{{GET Evidence
|gene=CYBA
|aa_change=Tyr72His
|aa_change_short=Y72H
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4673
|overall_frequency_n=6675
|overall_frequency_d=10758
|overall_frequency=0.620468
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=3
|webscore=N
|n_web_uneval=6
}}

{{PMID Auto
|PMID=22919264
|Title=No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients
|OA=1
}}

{{PMID Auto
|PMID=23576480
|Title=Association of Anthracycline-Related Cardiac Histological Lesions With NADPH Oxidase Functional Polymorphisms
|OA=1
}}

{{PMID Auto
|PMID=23725037
|Title=Polymorphism in the HMOX1 Gene is Associated with High Levels of Fetal Hemoglobin in Brazilian Patients with Sickle Cell Anemia
}}

{{PMID Auto
|PMID=24156725
|Title=Association of the C242T polymorphism in the NAD(P)H oxidase p22 phox gene with type 2 diabetes mellitus risk: A meta-analysis
}}

{{PMID Auto
|PMID=23560644
|Title=Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}