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: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.030 1.000 3 2000 2014
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		0.030 1.000 3 2005 2014
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 1.000 2 1991 2011
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.020 1.000 2 2004 2008
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.010 1.000 1 2002 2002
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.010 1.000 1 2014 2014