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Serum levels of protein MGAT2

DNAAF2 · rs9989177

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

2 / 4

Its strongest genetic-study result is p = 10⁻²⁰, 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 5,360 Icelandic ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.175 lower (95% confidence interval 0.14-0.21); p = 1 × 10⁻²⁰.

How common The T allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 14, band 14q21.3 — a missense change in DNAAF2.

What ClinVar records

Classification Benign/Likely benign for Primary ciliary dyskinesia, Primary ciliary dyskinesia 10; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 11 submitters), last evaluated 2026-02-04. ClinVar record 163091 NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)

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 2026-11-09 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

CT

Korean KRGDB

C 10.2% · T 89.8%

Korean Korea4K

C 10.2% · T 89.8%

Korean Korea1K

C 10.5% · T 89.5%

Japanese ToMMo

C 6.5% · T 93.5%

Vietnamese

C 16.8% · T 83.2%

World gnomAD

C 40.8% · T 59.2%

World 1000 Genomes

C 30.9% · T 69.1%

World TOPMed

C 37.7% · T 62.3%

By ancestry gnomAD

East Asian

C 12.6% · T 87.4%

European (non-Finnish)

C 53.8% · T 46.2%

African / African American

C 18.7% · T 81.3%

South Asian

C 47.7% · T 52.3%

Admixed American (Latino)

C 35.1% · T 64.9%

Middle Eastern

C 53.4% · T 46.6%

Finnish

C 58.5% · T 41.5%

Ashkenazi Jewish

C 56.5% · T 43.5%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C No copy of the version the research linked to Serum levels of protein MGAT2. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Serum levels of protein MGAT2. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Serum levels of protein MGAT2. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

A genome-wide association study of serum proteins reveals shared loci with common diseases

Gudjonsson A, Gudmundsdottir V, Axelsson GT, Gudmundsson EF, Jonsson BG, Launer LJ, Lamb JR, Jennings LL, Aspelund T, Emilsson V, Gudnason V

Nature communications · 2022 · PMID 35078996 · 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

Serum levels of protein MGAT2 (rs9989177). MyGeneLog™. https://www.mygenelog.com/variants/rs9989177

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