rs121908758, CFTR

N. diseases: 3
Source: BEFREE ×
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
162 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.830 1.000 3 1990 2015
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
23 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 1992 1992
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 1992 1992