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TPSAB1 protein levels

CACNA1H · rs41292283

Where this position leads

Condition: Celiac Disease

rs41292283 Condition: Celiac Disease Celiac Disease Condition rs41292283 rs41292283 CACNA1H

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.517 lower (95% confidence interval 0.38-0.65); p = 4 × 10−17.

How common The T allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 16, band 16p13.3 — in an intron of CACNA1H.

What each result means

C/C No copy of the version the research linked to TPSAB1 protein levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to TPSAB1 protein levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to TPSAB1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs41292283

What is rs41292283?

rs41292283 is a single position in the genome, in or near the CACNA1H gene. Published research associates it with tpsab1 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs41292283 linked to?

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

Does having rs41292283 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 rs41292283 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. 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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TPSAB1 protein levels (rs41292283). MyGeneLog™. https://www.mygenelog.com/variants/rs41292283

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