rs753063086, 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 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.800 1.000 17 1997 2017
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.700 1.000 4 1999 2009