Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151201155
rs151201155
0.700 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs1555751379
rs1555751379
0.700 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs745360675
rs745360675
T 0.700 CausalMutation CLINVAR The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs764608975
rs764608975
0.700 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs121434369
rs121434369
T 0.810 GeneticVariation CLINVAR The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. 10699052

2000

dbSNP: rs121434369
rs121434369
T 0.810 CausalMutation CLINVAR The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. 10699052

2000

dbSNP: rs121434369
rs121434369
0.810 GeneticVariation BEFREE The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. 10699052

2000

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs121434367
rs121434367
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs121434368
rs121434368
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs121434369
rs121434369
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs150938052
rs150938052
0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs372983141
rs372983141
0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs778153326
rs778153326
0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs786204626
rs786204626
0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs1282266790
rs1282266790
0.700 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs151201155
rs151201155
0.700 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs1555751379
rs1555751379
0.700 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs764608975
rs764608975
0.700 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs141437721
rs141437721
G 0.710 CausalMutation CLINVAR Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. 19433275

2009

dbSNP: rs199999619
rs199999619
C 0.700 CausalMutation CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907

2000

dbSNP: rs398123190
rs398123190
C 0.700 GeneticVariation CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907

2000

dbSNP: rs121434369
rs121434369
T 0.810 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015

dbSNP: rs199999619
rs199999619
G 0.700 GeneticVariation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015

dbSNP: rs199999619
rs199999619
C 0.700 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015