Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941474
rs28941474
0.810 GeneticVariation BEFREE Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. 29443755

2018

dbSNP: rs104893944
rs104893944
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