rs1037333 - RLIG1P3 - RPSAP74

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population - Unknown journal (n.d.) · Unknown authors · PubMed 37326468

    ABSTRACT: Abstract Background Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial birth malformations in humans and are generally classified as nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Genome‐wide association studies (GWASs) of NSOFCs have demonstrated multiple risk loci and candidate genes; however, published risk factors are able to explain only a small fraction of the observed NSOFCs heritability. Methods Here, we performed GWASs of 1615 NSCPO cases and 2340 controls, and then conducted genome‐wide meta‐analyses of NSOFCs, totaling 6812 NSCL/P cases, 2614 NSCPO cases, and 19,165 controls from the Chinese Han population. Results We identify 47 risk loci with genome‐wide p meta‐value <5.0 ×


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • genetic counseling for orofacial cleft risk Moderate

    This SNP is associated with significantly increased orofacial cleft risk and genetic counseling can clarify inherited risk patterns.

    Schedule consultation with a genetic counselor, especially before reproductive planning.