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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2017 2017