rs121908757, CFTR

N. diseases: 3
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 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.720 1.000 8 1991 2016
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.700 0
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.010 1.000 1 1999 1999