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Liver enzyme levels (alkaline phosphatase)

DTNBP1 · rs4712253

What the study found

Who was studied 437,438 European ancestry individuals; replicated in 315,572 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.00207 higher (95% confidence interval 0.0016-0.0025); p = 4 × 10−18.

How common The C allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 6, band 6p22.3 — in an intron of DTNBP1.

What each result means

C/C Two copies of the version the research linked to Liver enzyme levels (alkaline phosphatase). 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 Liver enzyme levels (alkaline phosphatase). That is a smaller link than two copies.
T/T No copy of the version the research linked to Liver enzyme levels (alkaline phosphatase). This is the starting point the study compared everyone against.
Source

Questions about rs4712253

What is rs4712253?

rs4712253 is a single position in the genome, in or near the DTNBP1 gene. Published research associates it with liver enzyme levels (alkaline phosphatase). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4712253 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 rs4712253 come from?

GWAS Catalog, Nature communications 2021, PMID:33972514. 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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Liver enzyme levels (alkaline phosphatase) (rs4712253). MyGeneLog™. https://www.mygenelog.com/variants/rs4712253

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