rs121908752, 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 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.820 1.000 33 1990 2014
Congenital bilateral aplasia of vas deferens
210 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.800 1.000 6 1995 2007
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.700 0