ARHGEF18 · rs12971753
Where this position leads
Condition: Cleft Lip with Cleft Palate
What the study found
Who was studied 1,084 European ancestry cases, 7,913 European ancestry controls.
The effect Each copy of the C allele carried 0.72 times the odds of Nonsyndromic cleft lip with or without cleft palate (95% confidence interval 0.63974-0.810329); p = 5 × 10−8.
How common The C allele had a frequency of about 23% in the people studied.
Where it sits Chromosome 19, band 19p13.2 — in an intron of ARHGEF18.
rs12971753 is a single position in the genome, in or near the ARHGEF18 gene. Published research associates it with nonsyndromic cleft lip with or without cleft palate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Cleft Lip with Cleft Palate. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, Human molecular genetics 2025, PMID:41075272. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Nonsyndromic cleft lip with or without cleft palate (rs12971753). MyGeneLog™. https://www.mygenelog.com/variants/rs12971753