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: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.730 1.000 3 1990 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2015 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		0.010 1.000 1 2015 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		0.010 1.000 1 2015 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.010 1.000 1 2010 2010
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 1.000 1 2010 2010
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		0.010 1.000 1 2010 2010