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 0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05 0.800 1.000 15 1992 2015
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05 0.020 1.000 2 1993 1996
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05 0.020 1.000 2 1993 1996