ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
Hemic and Lymphatic Diseases 0.040 0.750 4 2012 2017
dbSNP: rs7270101
rs7270101
0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
Hemic and Lymphatic Diseases 0.030 1.000 3 2012 2013