ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia
C 0.810 CausalMutation CLINVAR
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.800 CausalMutation CLINVAR
dbSNP: rs104893948
rs104893948
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
C 0.800 CausalMutation CLINVAR
dbSNP: rs104893942
rs104893942
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
G 0.700 CausalMutation CLINVAR
dbSNP: rs104893947
rs104893947
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs113767658
rs113767658
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1169538148
rs1169538148
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554249332
rs1554249332
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554250040
rs1554250040
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554251158
rs1554251158
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
GAAGA 0.700 GeneticVariation CLINVAR
dbSNP: rs1554251191
rs1554251191
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554251356
rs1554251356
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1562356664
rs1562356664
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1562361837
rs1562361837
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 CausalMutation CLINVAR
dbSNP: rs747579073
rs747579073
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs755359126
rs755359126
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs776939220
rs776939220
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
AT 0.700 GeneticVariation CLINVAR
dbSNP: rs796051923
rs796051923
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
CG 0.700 GeneticVariation CLINVAR
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia
0.810 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019 1992
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
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
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
0.800 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019 1992
dbSNP: rs104893940
rs104893940
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 CausalMutation CLINVAR Molecular genetic study of human arginase deficiency. 1598908 1992
dbSNP: rs104893940
rs104893940
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
T 0.700 GeneticVariation CLINVAR Molecular genetic study of human arginase deficiency. 1598908 1992
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia
0.810 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia
0.800 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995