rs139729994, CFTR

N. diseases: 2
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 0.925 0.120 7 117614713 missense variant G/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 2 1997 2000
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.925 0.120 7 117614713 missense variant G/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2015 2015