rs75541969, CFTR

N. diseases: 9
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 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.730 1.000 37 1990 2015
Congenital bilateral aplasia of vas deferens
210 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.700 1.000 6 1995 2007
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2015 2015
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2015 2015
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
7 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2015 2015
Hemoptysis
CUI: C0019079
Disease: Hemoptysis
1 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2015 2015
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010