rs121909047, CFTR

N. diseases: 2
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 117590355 missense variant C/A snv 1.2E-05 2.1E-05 0.810 1.000 27 1990 2016
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117590355 missense variant C/A snv 1.2E-05 2.1E-05 0.700 0