rs80034486, CFTR

N. diseases: 9
Source: BEFREE ×
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
162 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.900 0.966 16 1990 2019
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
28 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.720 1.000 2 2007 2011
Alkalosis
CUI: C0002063
Disease: Alkalosis
2 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2004 2004
Atypical cystic fibrosis
CUI: C4546077
Disease: Atypical cystic fibrosis
5 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2007 2007
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
7 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 1992 1992
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1 1992 1992
Obstructive azoospermia
CUI: C4023106
Disease: Obstructive azoospermia
5 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2011 2011
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2004 2004
Pseudo-Bartter syndrome
CUI: C0853277
Disease: Pseudo-Bartter syndrome
2 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2004 2004