Standard

Urinary metabolites (H-NMR features)

ABO · rs8176749

Where this position leads

Condition: Urinary Metabolites

rs8176749 Condition: Urinary Metabolites Urinary Metabolites Condition rs8176749 rs8176749 ABO

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−47, with 42 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 835 European ancestry individuals; replicated in 601 Brazilian individuals.

The effect Each copy of the C allele shifted the measure 0.48 higher; p = 4 × 10−12.

How common The C allele had a frequency of about 7% in the people studied.

Where it sits Chromosome 9, band 9q34.2 — a synonymous change in ABO.

What ClinVar records

Classification no classification for the single variant; no classification for the single variant (0 of 4 stars). ClinVar record 1696776 NM_020469.4(ABO):c.930G>A (p.Leu310=)

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 2026-10-19 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.

What each result means

C/C Two copies of the version the research linked to Urinary metabolites (H-NMR features). 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 Urinary metabolites (H-NMR features). That is a smaller link than two copies.
T/T No copy of the version the research linked to Urinary metabolites (H-NMR features). This is the starting point the study compared everyone against.
Source

Questions about rs8176749

What is rs8176749?

rs8176749 is a single position in the genome, in or near the ABO gene. Published research associates it with urinary metabolites (h-nmr features). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs8176749 linked to?

On MyGeneLog this position is linked to Urinary Metabolites. The research behind each link, and its sources, are set out on that condition page.

Does having rs8176749 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 rs8176749 come from?

GWAS Catalog, PLoS Genet 2014, PMID:24586186. 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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Urinary metabolites (H-NMR features) (rs8176749). MyGeneLog™. https://www.mygenelog.com/variants/rs8176749

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