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Orofacial clefts

KIAA1598 · rs7078160

Where this position leads

Condition: Cleft Lip and Palate

rs7078160 Condition: Cleft Lip and Palate Cleft Lip and Palate Condition rs7078160 rs7078160 KIAA1598

What the study found

Who was studied 399 European ancestry cases, 1,318 European ancestry controls; replicated in 655 European ancestry triads.

The effect Each copy of the A allele carried 1.36 times the odds of Orofacial clefts (95% confidence interval 1.21-1.53); p = 2 × 10−8.

How common The A allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 10, band 10q25.3 — inside SHTN1.

What each result means

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

Questions about rs7078160

What is rs7078160?

rs7078160 is a single position in the genome, in or near the KIAA1598 gene. Published research associates it with orofacial clefts. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7078160 linked to?

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

Does having rs7078160 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 rs7078160 come from?

GWAS Catalog, Nat Genet 2009, PMID:20023658. 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.

Orofacial clefts (rs7078160). MyGeneLog™. https://www.mygenelog.com/variants/rs7078160

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