Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763615602
rs763615602
DGUOK
G 0.800 GeneticVariation CLINVAR Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653

2016
dbSNP: rs763615602
rs763615602
DGUOK
0.800 GeneticVariation UNIPROT Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653

2016
dbSNP: rs763615602
rs763615602
DGUOK
0.800 GeneticVariation UNIPROT Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 17073823

2007
dbSNP: rs763615602
rs763615602
DGUOK
G 0.800 CausalMutation CLINVAR

dbSNP: rs748597500
rs748597500
DGUOK
A 0.700 CausalMutation CLINVAR