rs3764628

This is a regulatory region variant variant in the KLHL26 gene.

Research that mentions this SNP (1)

Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial clefts
AssociationN=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.

Traits studied:Cleft lip and palate (CLP)Cleft lip only (CL)Cleft lip with or without cleft palate (CL/P)Cleft palate only (CP)Orofacial clefts

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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