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Standard

DXA-Bone mineral density (total body) (UKB data field 23236)

COL4A2 · rs9515218

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, with 1 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 31,986 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0481 lower (95% confidence interval 0.032-0.065); p = 1 × 10−8.

How common The A allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-29. ClinVar record 1249370 NM_001846.4(COL4A2):c.1432+77A>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 2026-10-19 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

A/A Two copies of the version the research linked to DXA-Bone mineral density (total body) (UKB data field 23236). 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 DXA-Bone mineral density (total body) (UKB data field 23236). That is a smaller link than two copies.
G/G No copy of the version the research linked to DXA-Bone mineral density (total body) (UKB data field 23236). This is the starting point the study compared everyone against.
Source

Quoting this page

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DXA-Bone mineral density (total body) (UKB data field 23236) (rs9515218). MyGeneLog™. https://www.mygenelog.com/variants/rs9515218

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