CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 27; N. variants: 569
Disease: Pancreatitis ×
Source: CLINVAR ×
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: rs74571530
rs74571530 		0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.700 0