ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Childhood Acute Lymphoblastic Leukemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2010 2015
dbSNP: rs41320251
rs41320251 		0.882 0.120 20 3213196 missense variant C/A;G snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs766916111
rs766916111 		0.882 0.120 20 3223452 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015