Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Standard

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

ZNF638 · rs12992283

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, with 1 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 112,345 African American or Afro-Caribbean individuals, 54,221 Hispanic or Latin American individuals, 5,834 East Asian ancestry individuals, 389,315 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.023 lower (95% confidence interval 0.017-0.029); p = 2 × 10−14.

How common The C allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 2, band 2p13.2 — in an intron of ZNF638.

How common each version is

CT
Japanese ToMMo
C 99.7% · T 0.3%
World gnomAD
C 99.7% · T 0.3%
World 1000 Genomes
C 54.2% · T 45.8%

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. No Korean figure for this position yet.

What each result means

C/C Two copies of the version the research linked to Aspartate aminotransferase (AST, minimum, inv-norm transformed). 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 (AST, minimum, inv-norm transformed). That is a smaller link than two copies.
T/T No copy of the version the research linked to Aspartate aminotransferase (AST, minimum, inv-norm transformed). This is the starting point the study compared everyone against.
Source

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, minimum, inv-norm transformed) (rs12992283). MyGeneLog™. https://www.mygenelog.com/variants/rs12992283

← See all variants