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.
Anemia, Diamond-Blackfan
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
38 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 1.000 3 2008 2013
Diamond-Blackfan Anemia 1
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
13 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0
Microspherocytosis
CUI: C4025285
Disease: Microspherocytosis
1 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0