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.
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-05 0.700 1.000 3 1997 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-05 0.700 1.000 3 2008 2014