Disease: Oculomaxillofacial dysostosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907108
rs387907108 		1.000 0.160 22 24322224 missense variant A/C snv
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2011 2011