rs75527207, CFTR

N. diseases: 15
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 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.900 0.980 99 1990 2020
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1992 1996
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1995 2017
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
16 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 0.500 2 1996 1999
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1992 1996
Paranasal Sinus Disorder
CUI: C0030469
Disease: Paranasal Sinus Disorder
1 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 2015 2019
Asthma
CUI: C0004096
Disease: Asthma
1536 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2012 2012
Bone Demineralization, Pathologic
CUI: C0242699
Disease: Bone Demineralization, Pathologic
3 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2016 2016
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2009 2009
Rhinosinusitis
CUI: C0948780
Disease: Rhinosinusitis
1 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
Substance Withdrawal Syndrome
CUI: C0038587
Disease: Substance Withdrawal Syndrome
5 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2018 2018