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: rs545809
rs545809 		0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs545809
rs545809 		0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs545809
rs545809 		0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016