rs10174126
This is a intron variant variant in the SH3BP4 gene.
▶Research that mentions this SNP (1)
▶Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial cleftsAssociationN=2,458Min Shi et al.(2012)· American Journal of Medical Genetics Part A
This genome-wide association study examined maternal and parent-of-origin genetic effects on orofacial clefts in over 2,000 case-parent triads from an international consortium. While 15 SNPs showed suggestive maternal effects (p<10⁻⁵) and 18 SNPs showed parent-of-origin effects (p<10⁻⁵), including rs17138064 (p=5×10⁻⁷) in the cleft palate group, none survived genome-wide multiple testing correction. The study concluded that neither maternal genotype nor parent-of-origin effects play major roles in isolated orofacial clefting.
About SH3BP4
This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
View all SH3BP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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