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Standard

Height

BCKDHA · rs4674

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−18, with 3 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 472,730 East Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0211 higher (95% confidence interval 0.016-0.026); p = 3 × 10−18.

How common The A allele had a frequency of about 54% in the people studied.

Where it sits Chromosome 19, band 19q13.2 — inside BCKDHA.

What ClinVar records

Classification Benign for Maple syrup urine disease, Maple syrup urine disease type 1A; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 13 submitters), last evaluated 2026-02-04. ClinVar record 93343 NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)

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 50.9% · G 49.1%
Korean Korea4K
A 52.1% · G 47.9%
Korean Korea1K
A 52.5% · G 47.5%
Japanese ToMMo
A 52.1% · G 47.9%
World gnomAD
A 34.2% · G 65.8%
World 1000 Genomes
A 38.3% · G 61.7%
World TOPMed
A 34.2% · G 65.8%

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.

What each result means

A/A Two copies of the version the research linked to Height. 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 Height. That is a smaller link than two copies.
G/G No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
Source

Quoting this page

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Height (rs4674). MyGeneLog™. https://www.mygenelog.com/variants/rs4674

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