rs887783
This variant is located in the PHC1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian populationAssociationN=1,769Francesca Cura et al.(2016)· Birth Defects Research Part A: Clinical and Molecular Teratology
Family-based association study of 632 nsCL/P patients and 1,137 parents from Italy and Asia found suggestive evidence that SNAI1 polymorphisms protect against non-syndromic cleft lip/palate. The rs16995010-G allele was undertransmitted to affected individuals (P = 0.004, OR = 0.69, 95% CI 0.54-0.89), with stronger effects in Asian samples (OR = 0.51), though the result did not survive multiple testing correction (FDR-adjusted P = 0.051).
About PHC1
This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
View all PHC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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