Source: CLINVAR

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: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.800 0.943 23 2001 2020
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.700 1.000 3 2002 2014
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0