Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11971167
rs11971167
CFTR
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.730 0.941 3 2001 2017
dbSNP: rs11971167
rs11971167
CFTR
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.720 1.000 2 1999 2008
dbSNP: rs11971167
rs11971167
CFTR
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 < 0.001 1 2014 2014