Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893944
rs104893944
ARG1 ; MED23
T 0.710 CausalMutation CLINVAR Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 21802329

2012
dbSNP: rs104893944
rs104893944
ARG1 ; MED23
0.710 GeneticVariation BEFREE Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833

1999
dbSNP: rs104893944
rs104893944
ARG1 ; MED23
T 0.710 CausalMutation CLINVAR Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833

1999