rs74597325, CFTR

N. diseases: 18
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 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.800 1.000 16 1990 2017
Acute bronchitis and bronchiolitis
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
2 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Acute upper respiratory infection
CUI: C0264222
Disease: Acute upper respiratory infection
2 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Anal and rectal conditions
CUI: C0740266
Disease: Anal and rectal conditions
2 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
8 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Hypovolemia
CUI: C0546884
Disease: Hypovolemia
3 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Malabsorption
CUI: C3714745
Disease: Malabsorption
3 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Pancreatic Diseases
CUI: C0030286
Disease: Pancreatic Diseases
11 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
Chronic pulmonary heart disease
CUI: C0238074
Disease: Chronic pulmonary heart disease
1 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.010 1.000 1 2014 2014
Cor pulmonale
CUI: C0034072
Disease: Cor pulmonale
2 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.010 1.000 1 2014 2014