Standard

Alanine aminotransferase levels

near NAT2 · rs721399

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−57, with 6 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0132 higher (95% confidence interval 0.0099-0.0165); p = 4 × 10−15.

Where it sits Chromosome 8, band 8p22 — between genes, 0.6 kb from NAT2.

How common each version is

CT
Korean KRGDB
C 77.7% · T 22.3%
Korean Korea4K
C 78.2% · T 21.8%
Korean Korea1K
C 78.0% · T 22.1%
Japanese ToMMo
C 79.3% · T 20.6%
Vietnamese
C 61.8% · T 38.2%
World gnomAD
C 35.7% · T 64.3%
World 1000 Genomes
C 44.2% · T 55.8%
World TOPMed
C 37.6% · T 62.4%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

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

Questions about rs721399

What is rs721399?

rs721399 is a single position in the genome, in or near the near NAT2 gene. Published research associates it with alanine 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 rs721399 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 rs721399 come from?

GWAS Catalog, Nature communications 2025, PMID:40436827. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Alanine aminotransferase levels (rs721399). MyGeneLog™. https://www.mygenelog.com/variants/rs721399

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