Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 GeneticVariation CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030

2016
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 GeneticVariation CLINVAR Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 24103480

2014
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 CausalMutation CLINVAR Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 24103480

2014
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 GeneticVariation CLINVAR Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects. 18957279

2009
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 CausalMutation CLINVAR Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. 19052914

2008
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 GeneticVariation CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193

1996
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 CausalMutation CLINVAR Molecular genetic study of human arginase deficiency. 1598908

1992
dbSNP: rs104893940
rs104893940
ARG1 ; MED23
T 0.700 GeneticVariation CLINVAR Molecular genetic study of human arginase deficiency. 1598908

1992