CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Hypochloremic alkalosis ×
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: rs186089140
rs186089140 		0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018