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: rs74597325
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 12 1990 2017
dbSNP: rs74597325
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale 		0.010 1.000 1 2014 2014
dbSNP: rs74597325
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0238074
Disease: Chronic pulmonary heart disease
Chronic pulmonary heart disease 		0.010 1.000 1 2014 2014