Standard

Aspartate aminotransferase (AST, mean, inv-norm transformed)

MYO15A · rs712271

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹³, with 2 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 112,429 African American or Afro-Caribbean individuals, 54,250 Hispanic or Latin American individuals, 5,835 East Asian ancestry individuals, 389,192 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0216 lower (95% confidence interval 0.016-0.027); p = 2 × 10⁻¹³.

How common The A allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 17, band 17p11.2 — in an intron of MYO15A.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-22. ClinVar record 1246601 NM_016239.4(MYO15A):c.8088+62A>G

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-11-01 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

How common each version is

AG

Korean KRGDB

A 37.2% · G 62.8%

Korean Korea4K

A 38.8% · G 61.2%

Korean Korea1K

A 39.1% · G 60.9%

Japanese ToMMo

A 41.3% · G 58.7%

Vietnamese

A 48.6% · G 51.4%

World gnomAD

A 24.9% · G 75.1%

World 1000 Genomes

A 31.8% · G 68.2%

World TOPMed

A 24.5% · G 75.5%

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

A/A Two copies of the version the research linked to Aspartate aminotransferase (AST, mean, inv-norm transformed). 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 Aspartate aminotransferase (AST, mean, inv-norm transformed). That is a smaller link than two copies.

G/G No copy of the version the research linked to Aspartate aminotransferase (AST, mean, inv-norm transformed). This is the starting point the study compared everyone against.

Source

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F

and 59 more — show all

Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

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

Aspartate aminotransferase (AST, mean, inv-norm transformed) (rs712271). MyGeneLog™. https://www.mygenelog.com/variants/rs712271

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