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SMPD1 protein levels

near BNIP1 · rs72816168

Where this position leads

Condition: Celiac Disease

rs72816168 Condition: Celiac Disease Celiac Disease Condition rs72816168 rs72816168 near BNIP1

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0498 lower (95% confidence interval 0.035-0.065); p = 8 × 10−13.

How common The A allele had a frequency of about 13% in the people studied.

Where it sits Chromosome 5, band 5q35.1 — between genes, 3.6 kb from BNIP1.

What each result means

A/A Two copies of the version the research linked to SMPD1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to SMPD1 protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to SMPD1 protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs72816168

What is rs72816168?

rs72816168 is a single position in the genome, in or near the near BNIP1 gene. Published research associates it with smpd1 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 rs72816168 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 rs72816168 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 rs72816168 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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SMPD1 protein levels (rs72816168). MyGeneLog™. https://www.mygenelog.com/variants/rs72816168

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