Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941474
rs28941474
ARG1
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: rs28941474
rs28941474
ARG1
0.810 GeneticVariation UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013
dbSNP: rs28941474
rs28941474
ARG1
0.810 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135

2012
dbSNP: rs28941474
rs28941474
ARG1
0.810 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538

1995
dbSNP: rs28941474
rs28941474
ARG1
0.810 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992
dbSNP: rs28941474
rs28941474
ARG1
C 0.810 CausalMutation CLINVAR

dbSNP: rs104893948
rs104893948
ARG1 ; MED23
A 0.800 GeneticVariation CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030

2016
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
A 0.800 GeneticVariation CLINVAR Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135

2012
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135

2012
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
A 0.800 GeneticVariation CLINVAR Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. 11883902

2002
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
A 0.800 GeneticVariation CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193

1996
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538

1995
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538

1995
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
A 0.800 GeneticVariation CLINVAR Molecular basis of phenotypic variation in patients with argininemia. 7649538

1995
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
0.800 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893948
rs104893948
ARG1 ; MED23
C 0.800 CausalMutation CLINVAR

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
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