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 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.880 0.979 48 1990 2016
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.710 1.000 1 1998 1998
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.700 0
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.030 1.000 3 1992 1998
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.030 1.000 3 1992 1998
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.020 1.000 2 1995 1995
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.010 1.000 1 1995 1995