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: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.710 1.000 2 2015 2015
dbSNP: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 2015 2015
dbSNP: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs724159947
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2015 2015