rs74503330, CFTR

N. diseases: 2
Source: BEFREE ×
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
162 0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06 0.820 1.000 2 1992 2016
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
28 0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016