rs1800076, CFTR

N. diseases: 10
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.
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.700 1.000 1 2011 2011
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
16 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.030 1.000 3 2005 2014
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.030 1.000 3 2000 2014
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 2004 2008
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 1991 2011
Classical cystic fibrosis
CUI: C4546076
Disease: Classical cystic fibrosis
3 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
Idiopathic bronchiectasis
CUI: C0339985
Disease: Idiopathic bronchiectasis
6 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
787 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2002 2002