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 89738944 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 7 2005 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 16 89738944 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 5 2005 2017