Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. 27504266

2016
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Adenylosuccinate lyase deficiency. 25112391

2015
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. 23714113

2013
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. 23714113

2013
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450940
rs119450940
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450941
rs119450941
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450942
rs119450942
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450944
rs119450944
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs374259530
rs374259530
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs763542069
rs763542069
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs777821034
rs777821034
ADSL
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450943
rs119450943
ADSL
0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs376533026
rs376533026
ADSL
0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs119450941
rs119450941
ADSL
A 0.800 CausalMutation CLINVAR Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. 23504561

2014
dbSNP: rs373458753
rs373458753
ADSL
T 0.810 CausalMutation CLINVAR Interestingly, unlike other mutations leading to ADSL deficiency, the R303C mutation has been suggested to more significantly affect the enzyme's ability to catalyze the conversion of succinyladenosine monophosphate than that of SAICAR to their respective products. 22812634

2012
dbSNP: rs373458753
rs373458753
ADSL
0.810 GeneticVariation UNIPROT Interestingly, unlike other mutations leading to ADSL deficiency, the R303C mutation has been suggested to more significantly affect the enzyme's ability to catalyze the conversion of succinyladenosine monophosphate than that of SAICAR to their respective products. 22812634

2012
dbSNP: rs202064195
rs202064195
ADSL
0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs28941471
rs28941471
ADSL
0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs374259530
rs374259530
ADSL
0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs763542069
rs763542069
ADSL
0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs777821034
rs777821034
ADSL
0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs143083947
rs143083947
ADSL
0.700 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs1465152683
rs1465152683
ADSL
0.700 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012
dbSNP: rs370851726
rs370851726
ADSL
0.700 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634

2012