rs1057516457, 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.
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0