rs121909005, CFTR

N. diseases: 5
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 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.820 1.000 40 1990 2016
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.700 0
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999