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, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
73 0.925 0.120 9 95111489 frameshift variant -/A delins 4.0E-06 2.1E-05 0.700 1.000 1 1996 1996
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 9 95111489 frameshift variant -/A delins 4.0E-06 2.1E-05 0.700 0