Sensitive

Methazolamide-induced Stevens-Johnson syndrome / toxic epidermal necrolysis

HLA-C · rs2074494

What the study found

Who was studied 15 Han Chinese ancestry cases, 806 Han Chinese ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 5 × 10−12.

How common The T allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — in a non-coding transcript of HLA-C.

What each result means

C/C No copy of the version the research linked to Methazolamide-induced Stevens-Johnson syndrome / toxic epidermal necrolysis. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Methazolamide-induced Stevens-Johnson syndrome / toxic epidermal necrolysis. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Methazolamide-induced Stevens-Johnson syndrome / toxic epidermal necrolysis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2074494

What is rs2074494?

rs2074494 is a single position in the genome, in or near the HLA-C gene. Published research associates it with methazolamide-induced stevens-johnson syndrome / toxic epidermal necrolysis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2074494 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 rs2074494 come from?

GWAS Catalog, Journal of the European Academy of Dermatology and Venereology : JEADV 2022, PMID:35122707. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Methazolamide-induced Stevens-Johnson syndrome / toxic epidermal necrolysis (rs2074494). MyGeneLog™. https://www.mygenelog.com/variants/rs2074494

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