CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Idiopathic chronic 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: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.030 1.000 3 2005 2014
dbSNP: rs150157202
rs150157202 		0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs397508687
rs397508687 		0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs76371115
rs76371115 		0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2001 2001