rs1057516430, FANCA

N. diseases: 2
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 A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 16 89811060 stop gained G/A snv 0.710 1.000 1 2005 2005
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 16 89811060 stop gained G/A snv 0.010 1.000 1 2005 2005