rs4673

A SNP in the CYBA gene on chromosome 16. Its most notable genotype is A;A: Conflicting impact reported wrt heart disease risk; may depend on ethnicity

Gene
CYBA
Location
Chr 1688,646,828 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
30%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodnormalTypical · 0.047% of people
  2. A;GNot ratednormalTypical · 0.038% of people
  3. A;AMost notableNot ratedConflicting impact reported wrt heart disease risk; may depend on ethnicityMinor · 1.015% of people

SNPedia records rs4673 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 47% A;G 38% A;A 15%
  • European ancestry (Utah)G;G 47% A;G 43% A;A 10%
  • Han Chinese (Beijing)G;G 83% A;G 17% A;A 0%
  • Japanese (Tokyo)G;G 88% A;G 12% A;A 0%
  • Yoruba (Nigeria)G;G 18% A;G 54% A;A 28%
  • African ancestry (Southwest US)G;G 25% A;G 47% A;A 28%
  • Chinese (Denver)G;G 86% A;G 12% A;A 2%
  • Gujarati IndianG;G 42% A;G 45% A;A 14%
  • Luhya (Kenya)G;G 28% A;G 47% A;A 25%
  • Mexican ancestry (Los Angeles)G;G 48% A;G 45% A;A 7%
  • Maasai (Kenya)G;G 25% A;G 47% A;A 28%
  • TuscanG;G 28% A;G 52% A;A 20%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 340 words

rs4673, also known as C242T or H72Y, is a SNP in the NAD(P)H oxidase p22(phox) subunit CYBA gene on chromosome 16. The rs4673(T) allele, and specifically (T;T) genotype, has been reported in several studies to be associated with reduced risk for cardiovascular disease risk, such as hypertension, atherosclerosis, and myocardial infarction, and to reduce oxidative burst in neutrophils.,,heart.bmj.com, However, other studies have found no support for this, or even found the opposite. For example, 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. Whether the variant reduces or increases risk may even depend on the ethnic group in question. 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. Genetic polymorphisms and susceptibility to lung disease. Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. Development of a fingerprinting panel using medically relevant polymorphisms. Analysis of the host pharmacogenetic background for prediction of outcome and toxicity in diffuse large B-cell lymphoma treated with R-CHOP21. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?

A;A

see discussion at rs4673

Source and license

Adapted from rs4673 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.