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: rs121913454
rs121913454
ABL1
0.925 0.080 9 130874969 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 8 2002 2016
dbSNP: rs121913454
rs121913454
ABL1
0.925 0.080 9 130874969 missense variant A/G snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 1.000 1 2016 2016