CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Respiratory Failure ×
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: rs75961395
rs75961395 		0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		Respiratory Tract Diseases 0.010 1.000 1 1996 1996