CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Hereditary 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: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 1 2011 2011