rs75389940, CFTR

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.830 1.000 17 2001 2017
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017