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Standard

Height

APC · rs544243

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−163, 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 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0174 higher (95% confidence interval 0.016-0.019); p = 2 × 10−163.

How common The T allele had a frequency of about 41% in the people studied.

Where it sits Chromosome 5, band 5q22.2 — in an intron of APC.

What ClinVar records

Classification other for Familial colorectal cancer; no assertion criteria provided (0 of 4 stars, 1 submitter). ClinVar record 83182 NM_000038.6(APC):c.1743+2461T>G

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

GT

By ancestry gnomAD

East Asian
G 90.3% · T 9.7%
European (non-Finnish)
G 55.0% · T 45.0%
African / African American
G 63.1% · T 36.9%
South Asian
G 64.9% · T 35.1%
Admixed American (Latino)
G 65.9% · T 34.1%
Middle Eastern
G 57.5% · T 42.5%
Finnish
G 47.2% · T 52.8%
Ashkenazi Jewish
G 54.5% · T 45.5%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

G/G No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Height. That is a smaller link than two copies.
T/T 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.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Source

Quoting this page

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Height (rs544243). MyGeneLog™. https://www.mygenelog.com/variants/rs544243

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