rs117576703 - PTPRN2: Unilateral cleft lip and palate association
Upload your raw genetic data once, we'll show you which variants you carry and what the research says.
Key takeaways
- This variant is linked to unilateral cleft lip and palate with a reported effect size of 2.22 p=4e-6 in about 2 thousand individuals.
- The association comes from GWAS Catalog data.
- It affects the PTPRN2 gene at this locus.
Key takeaways
- This variant is linked to unilateral cleft lip and palate with a reported effect size of 2.22 p=4e-6 in about 2 thousand individuals.
- The association comes from GWAS Catalog data.
- It affects the PTPRN2 gene at this locus.
What the research says This variant is associated with unilateral cleft lip and palate with a reported effect size of 2.22 p=4e-6 in about 2 thousand individuals PMID 33817668.
Reported associations Unilateral cleft lip and palate This variant is associated with the condition with a reported effect size of 2.22 p=4e-6 in about 2 thousand individuals [PMID 33817668].
Evidence quality The supplied studies include one GWAS Catalog association involving about 2000 individuals reporting an effect size of 2.22 p=4e-6 for this variant. The evidence is limited to a single study and has not been replicated. No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs117576703 mean?
It is a genetic variant in the PTPRN2 gene that has been linked to unilateral cleft lip and palate according to GWAS data.
Is this variant common?
The study reports it as rare, affecting about 2 thousand individuals out of many.
Can I get a test for this?
Testing is not recommended; the evidence does not support clinical use.