CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Cleft palate with cleft lip ×
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: rs757422353
rs757422353 		0.882 0.200 16 68823432 missense variant C/G snv 4.0E-06
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs876658146
rs876658146 		0.882 0.200 16 68815743 missense variant A/G snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019