rs11971167, 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 117642528 missense variant G/A;T snv 1.3E-03 0.730 0.941 17 2001 2017
Congenital bilateral aplasia of vas deferens
210 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.720 1.000 2 1999 2008
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.010 1 2014 2014