SFI1, SFI1 centrin binding protein, 9814

N. diseases: 12; N. variants: 3
Disease: Cleft upper 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: rs2006771
rs2006771 		0.925 0.120 22 31602626 missense variant G/A snv 0.41 0.44
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017