rs397508139, 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 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 37 1990 2015
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.700 0
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000