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Carbamazepine-induced serious cutaneous adverse reaction

POLR1HASP · rs192543598

What the study found

Who was studied 43 European ancestry cases, 10,701 European ancestry controls.

The effect Each copy of the G allele carried 18.11 times the odds of Carbamazepine-induced serious cutaneous adverse reaction (95% confidence interval 8.03-40.88); p = 2 × 10−12.

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

Where it sits Chromosome 6, band 6p22.1 — in an intron of POLR1HASP.

What each result means

A/A No copy of the version the research linked to Carbamazepine-induced serious cutaneous adverse reaction. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Carbamazepine-induced serious cutaneous adverse reaction. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Carbamazepine-induced serious cutaneous adverse reaction. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs192543598

What is rs192543598?

rs192543598 is a single position in the genome, in or near the POLR1HASP gene. Published research associates it with carbamazepine-induced serious cutaneous adverse reaction. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs192543598 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 rs192543598 come from?

GWAS Catalog, Clinical pharmacology and therapeutics 2019, PMID:31066027. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Carbamazepine-induced serious cutaneous adverse reaction (rs192543598). MyGeneLog™. https://www.mygenelog.com/variants/rs192543598

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