rs121909011, CFTR

N. diseases: 6
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 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.850 1.000 41 1990 2015
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.800 1.000 6 1995 2007
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.700 0
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.020 1.000 2 1992 1995
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.020 1.000 2 1992 1995