Gene: ASL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777235530
rs777235530
ASL
A 0.700 CausalMutation CLINVAR Expanding the phenotype in argininosuccinic aciduria: need for new therapies. 28251416

2017
dbSNP: rs796051933
rs796051933
ASL
G 0.700 GeneticVariation CLINVAR Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. 27515243

2017
dbSNP: rs145138923
rs145138923
ASL
A 0.700 CausalMutation CLINVAR Corpus callosum abnormalities: neuroradiological and clinical correlations. 26661037

2016
dbSNP: rs145138923
rs145138923
ASL
A 0.700 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs145138923
rs145138923
ASL
A 0.700 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs202142867
rs202142867
ASL
C 0.700 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs202142867
rs202142867
ASL
C 0.700 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs756363516
rs756363516
ASL
G 0.700 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938

2015
dbSNP: rs1329070853
rs1329070853
ASL
G 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs142637046
rs142637046
ASL
A 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs145138923
rs145138923
ASL
A 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs145138923
rs145138923
ASL
A 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs1554327573
rs1554327573
ASL
A 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs202142867
rs202142867
ASL
C 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs202142867
rs202142867
ASL
C 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs369879957
rs369879957
ASL
T 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs398123127
rs398123127
ASL
A 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs751590073
rs751590073
ASL
A 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs752100894
rs752100894
ASL
G 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs752783461
rs752783461
ASL
A 0.700 GeneticVariation CLINVAR Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. 25433810

2014
dbSNP: rs752783461
rs752783461
ASL
A 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs756363516
rs756363516
ASL
G 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs757109353
rs757109353
ASL
C 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs767543051
rs767543051
ASL
T 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014
dbSNP: rs770375565
rs770375565
ASL
T 0.700 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829

2014