rs28493229
A SNP in the COQ8B gene on chromosome 19. Its most notable genotype is G;G.
- Gene
- COQ8B
- Location
- Chr 1940,718,299 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 10%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 120 words
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation. ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease. Single-nucleotide Polymorphism rs2290692 in the 3'UTR of ITPKC Associated With Susceptibility to Kawasaki Disease in a Han Chinese Population. Calcineurin Inhibitor Treatment of Intravenous Immunoglobulin-Resistant Kawasaki Disease. Genetic polymorphisms in the ITPKC gene and cervical squamous cell carcinoma risk.
Source and license
Adapted from rs28493229 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.