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PVR protein levels

BLOC1S3 · rs62118471

Where this position leads

Condition: Celiac Disease

rs62118471 Condition: Celiac Disease Celiac Disease Condition rs62118471 rs62118471 BLOC1S3

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.144 lower (95% confidence interval 0.11-0.18); p = 4 × 10−16.

How common The C allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 19, band 19q13.32 — in a regulatory region of BLOC1S3.

What each result means

C/C Two copies of the version the research linked to PVR protein levels. 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 PVR protein levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to PVR protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs62118471

What is rs62118471?

rs62118471 is a single position in the genome, in or near the BLOC1S3 gene. Published research associates it with pvr 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 rs62118471 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 rs62118471 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 rs62118471 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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PVR protein levels (rs62118471). MyGeneLog™. https://www.mygenelog.com/variants/rs62118471

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