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 1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- delins 0.700 1.000 3 1993 2014