Variant: rs797044857

present in Gene: GRHL3 present in Chromosome: 1 Position on Chromosome: 24354474 Alleles of this Variant: C/G

rs797044857 in GRHL3 gene and Multiple congenital anomalies PMID 28886269 2018 Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

PMID 28276201 2017 Rare deleterious variants in GRHL3 are associated with human spina bifida.

PMID 24360809 2014 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.