ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Pseudohyperkalemia Cardiff ×
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: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3810560
rs3810560 		1.000 0.040 20 3227173 downstream gene variant T/C snv 0.34
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7270101
rs7270101 		0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019