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: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs200203460
rs200203460
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0