rs121908759, 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.
Classical cystic fibrosis
CUI: C4546076
Disease: Classical cystic fibrosis
3 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.010 1.000 1 2015 2015
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.800 1.000 6 1995 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.710 1.000 3 2008 2015