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Beta-hydroxyisovalerate levels

TIALD · rs1154510

What the study found

Who was studied 8,201 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.213 higher (95% confidence interval 0.17-0.26); p = 8 × 10−21.

How common The C allele had a frequency of about 88% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — a missense change in TIALD.

What ClinVar records

Classification Benign for Hawkinsinuria, Tyrosinemia type III; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2026-02-04. ClinVar record 802899 NM_002150.3(HPD):c.97A>G (p.Thr33Ala)

Classification Benign for Hawkinsinuria, Tyrosinemia type III; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2026-02-04. ClinVar record 1577 NM_002150.3(HPD):c.97= (p.Thr33=)

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 Beta-hydroxyisovalerate levels. 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 Beta-hydroxyisovalerate levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to Beta-hydroxyisovalerate levels. This is the starting point the study compared everyone against.
Source

Questions about rs1154510

What is rs1154510?

rs1154510 is a single position in the genome, in or near the TIALD gene. Published research associates it with beta-hydroxyisovalerate levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1154510 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 rs1154510 come from?

GWAS Catalog, Nature genetics 2023, PMID:36635386. 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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Beta-hydroxyisovalerate levels (rs1154510). MyGeneLog™. https://www.mygenelog.com/variants/rs1154510

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