Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746930990
rs746930990
ITPA
0.800 GeneticVariation UNIPROT Recessive ITPA mutations cause an early infantile encephalopathy. 26224535

2015
dbSNP: rs746930990
rs746930990
ITPA
T 0.800 CausalMutation CLINVAR