Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.980 69 1990 2020
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		0.020 1.000 2 1992 1996
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		0.020 0.500 2 1996 1999
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 1.000 2 1995 2017
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0030469
Disease: Paranasal Sinus Disorder
Paranasal Sinus Disorder 		0.020 1.000 2 2015 2019
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.020 1.000 2 1992 1996
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0948780
Disease: Rhinosinusitis
Rhinosinusitis 		0.010 1.000 1 2019 2019
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 1.000 1 2009 2009
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		0.010 1.000 1 2016 2016
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2012 2012
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2019 2019