CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Exocrine pancreatic insufficiency ×
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: rs35516286
rs35516286 		0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 1.000 1 1992 1992