rs202179988, 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 117611649 missense variant C/T snv 4.8E-05 2.8E-05 0.020 1.000 2 2008 2010
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
28 0.925 0.160 7 117611649 missense variant C/T snv 4.8E-05 2.8E-05 0.010 1.000 1 2008 2008