Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs62638745
rs62638745
EPOR
0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.700 0
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.070 1.000 7 2006 2017
dbSNP: rs121913502
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.020 1.000 2 2015 2017
dbSNP: rs1057519996
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs1293657674
rs1293657674
THPO ; CHRD
0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 < 0.001 1 2000 2000