Sensitive

Systemic lupus erythematosus

TMEM116 · rs76596471

Where this position leads

Condition: Systemic Lupus Erythematosus

rs76596471 Condition: Systemic Lupus Erythematosus Systemic Lupus Erythematosus Condition rs76596471 rs76596471 TMEM116

What the study found

Who was studied 4,734 Chinese ancestry cases, 9,425 Chinese ancestry controls, 835 Thai ancestry cases, 2,995 Thai ancestry controls.

The effect Each copy of the C allele carried 1.45 times the odds of Systemic lupus erythematosus (95% confidence interval 1.35-1.55); p = 7 × 10−12.

How common The C allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 12, band 12q24.13 — in an intron of TMEM116.

What each result means

C/C Two copies of the version the research linked to Systemic lupus erythematosus. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Systemic lupus erythematosus. That is a smaller link than two copies.
T/T No copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.
Source

Questions about rs76596471

What is rs76596471?

rs76596471 is a single position in the genome, in or near the TMEM116 gene. Published research associates it with systemic lupus erythematosus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs76596471 linked to?

On MyGeneLog this position is linked to Systemic Lupus Erythematosus. The research behind each link, and its sources, are set out on that condition page.

Does having rs76596471 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 rs76596471 come from?

GWAS Catalog, Arthritis & rheumatology (Hoboken, N.J.) 2022, PMID:34783190. 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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Systemic lupus erythematosus (rs76596471). MyGeneLog™. https://www.mygenelog.com/variants/rs76596471

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