Standard

Height

C2CD3 · rs2272321

Where this position leads

Condition: Height

rs2272321 Condition: Height Height Condition rs2272321 rs2272321 C2CD3

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 G allele shifted the measure 0.0214 lower (95% confidence interval 0.016-0.026); p = 1 × 10−16.

How common The G allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 11, band 11q13.4 — in an intron of C2CD3.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2021-05-11. ClinVar record 1227935 NM_001286577.2(C2CD3):c.5660+175T>C

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

Questions about rs2272321

What is rs2272321?

rs2272321 is a single position in the genome, in or near the C2CD3 gene. Published research associates it with height. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2272321 linked to?

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

Does having rs2272321 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 rs2272321 come from?

GWAS Catalog, Nature 2022, PMID:36224396. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Height (rs2272321). MyGeneLog™. https://www.mygenelog.com/variants/rs2272321

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