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 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019
Sex Differentiation Disorders
CUI: C2930619
Disease: Sex Differentiation Disorders
10 0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019