Source: BEFREE

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: rs121913452
rs121913452
ABL1
0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.740 1.000 4 2003 2014
dbSNP: rs121913452
rs121913452
ABL1
0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs121913452
rs121913452
ABL1
0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.010 1.000 1 2006 2006
dbSNP: rs121913452
rs121913452
ABL1
0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2015 2015