ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Anemia ×
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: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.900 0.900 20 2010 2020
dbSNP: rs7270101
rs7270101 		0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.070 0.857 7 2011 2018