Standard

Craniofacial microsomia

KLF12 · rs17090300

What the study found

Who was studied 330 Chinese ancestry left-side-affected cases, 609 Chinese ancestry right-side-affected cases, 2,012 Chinese ancestry controls; replicated in 151 Chinese ancestry left-side-affected cases, 292 Chinese ancestry right-side-affected cases, 1,669 Chinese ancestry controls.

The effect Each copy of the G allele carried 2.31 times the odds of Craniofacial microsomia (95% confidence interval 1.81-2.93); p = 1 × 10−11.

How common The G allele had a frequency of about 5% in the people studied.

Where it sits Chromosome 13, band 13q22.1 — in an intron of LINC00392.

What each result means

A/A No copy of the version the research linked to Craniofacial microsomia. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Craniofacial microsomia. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Craniofacial microsomia. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs17090300

What is rs17090300?

rs17090300 is a single position in the genome, in or near the KLF12 gene. Published research associates it with craniofacial microsomia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17090300 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 rs17090300 come from?

GWAS Catalog, Nature communications 2016, PMID:26853712. 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.

Craniofacial microsomia (rs17090300). MyGeneLog™. https://www.mygenelog.com/variants/rs17090300

← See all variants