rs80224560, CFTR

N. diseases: 4
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 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 1.000 6 2003 2014
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 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 0