CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Pancreatitis ×
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: rs397508139
rs397508139 		0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2000 2000