rs35516286, CFTR

N. diseases: 4
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 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.840 1.000 18 2001 2017
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.700 0
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.010 1.000 1 1992 1992
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.010 1.000 1 1992 1992