rs745568821, 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
CUI: C0015625
Disease: Fanconi Anemia
173 0.925 0.120 16 89761961 stop gained G/C snv 4.0E-06; 8.0E-06 7.0E-06 0.700 1.000 4 1997 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 16 89761961 stop gained G/C snv 4.0E-06; 8.0E-06 7.0E-06 0.700 1.000 1 2003 2003