Who was studied 117 Japanese ancestry cases, 688 Japanese ancestry controls; replicated in 52 East Asian ancestry cases, 302 East Asian ancestry controls.
The effect
Each copy of the C allele carried 5.61 times the odds of Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications (95% confidence interval 3.08-10.21); p = 2 × 10−8.
How common The C allele had a frequency of about 8% in the people studied.
Where it sits Chromosome 15, band 15q24.1 — inside LOC124903571.
What each result means
C/CPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications compared to the general population.
C/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications.
G/GPublished research associates this genotype with typical/baseline likelihood of Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications — no copies of the reported risk allele.
rs16957893 is a single position in the genome, in or near the REC114 gene. Published research associates it with cold medicine-related stevens-johnson syndrome/toxic epidermal necrolysis (sjs/ten) with severe ocular complications. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs16957893 linked to?
On MyGeneLog this position is linked to Cold Medicine-Related SJS/TEN with Severe Ocular Complications. The research behind each link, and its sources, are set out on that condition page.
Does having rs16957893 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs16957893 come from?
GWAS Catalog, J Hum Genet 2017, PMID:28100913. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.