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Aspartate aminotransferase levels

AP1B1 · rs11704551

What the study found

Who was studied 389,565 European ancestry individuals; replicated in 134,182 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 7.84 z-score higher; p = 5 × 10−15.

How common The C allele had a frequency of about 74% in the people studied.

Where it sits Chromosome 22, band 22q12.2 — in an intron of AP1B1.

What each result means

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

Questions about rs11704551

What is rs11704551?

rs11704551 is a single position in the genome, in or near the AP1B1 gene. Published research associates it with aspartate aminotransferase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11704551 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 rs11704551 come from?

GWAS Catalog, Nature communications 2021, PMID:33547301. 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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Aspartate aminotransferase levels (rs11704551). MyGeneLog™. https://www.mygenelog.com/variants/rs11704551

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