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: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.850 0.833 6 2010 2020
dbSNP: rs6139030
rs6139030
1.000 0.080 20 3207087 upstream gene variant T/C snv 8.6E-02
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.800 1.000 1 2011 2011
dbSNP: rs7270101
rs7270101
0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.800 1.000 1 2010 2010