rs11293094 - CDKN2B-AS1
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Key takeaways
- This variant is linked to left unilateral cleft lip with a reported effect size of 1.9 p=5e-6 in about 1 thousand individuals.
- The association is based on a GWAS catalog finding and not a clinical test.
- It is a single nucleotide polymorphism (SNP) in the CDKN2B gene.
What the research says This variant is associated with left unilateral cleft lip with an effect size of 1.9 and p=5e-6 in about 1 thousand individuals [PMID 34130359]. The GWAS catalog reports this association but does not indicate clinical utility.
Reported associations
- Left unilateral cleft lip - the variant is associated with a reported effect size of 1.9 p=5e-6 in about 1 thousand individuals [PMID 34130359].
Evidence quality The evidence comes from a GWAS catalog association with a sample size of about 1 thousand individuals and a reported effect size of 1.9 p=5e-6 [PMID 34130359]. No replication studies are provided in the supplied data so the finding is not confirmed by independent cohorts.
No lifestyle considerations on file for this variant.
SEO metadata: title_seo "rs11293094 - CDKN2B-AS1 linked to cleft lip" meta_description "This SNP in CDKN2B is associated with left unilateral cleft lip based on a GWAS catalog finding." social_title "CDKN2B-AS1 variant linked to cleft lip" social_summary "A single nucleotide polymorphism in CDKN2B shows a strong association with left unilateral cleft lip according to a GWAS catalog study." primary_traits ["Left unilateral cleft lip"] key_takeaways ["This variant is linked to left unilateral cleft lip with a reported effect size of 1.9 p=5e-6 in about 1 thousand individuals.", "The association is based on a GWAS catalog finding and not a clinical test.", "It is a single nucleotide polymorphism (SNP) in the CDKN2B gene."] faq_pairs [{"question": "What does rs11293094 mean?", "answer": "This SNP in CDKN2B is linked to left unilateral cleft lip based on a GWAS catalog finding."} {"question": "Is this variant clinically significant?", "answer": "The study reports an association but does not indicate clinical utility or diagnostic value."} {"question": "Can I test for this variant?", "answer": "Testing for rs11293094 may be available through some genetic panels but it is not a standard clinical test."} ] related_keywords ["CDKN2B", "left unilateral cleft lip", "rs11293094", "SNP", "genetic association"]