CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Classical cystic fibrosis ×
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: rs121908759
rs121908759 		0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs772223589
rs772223589 		0.925 0.120 7 117590391 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2010 2010