Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR

dbSNP: rs567564095
rs567564095
GCDH ; SYCE2
0.800 GeneticVariation UNIPROT

dbSNP: rs567564095
rs567564095
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR

dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
T 0.710 CausalMutation CLINVAR

dbSNP: rs1348974766
rs1348974766
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT

dbSNP: rs1568429257
rs1568429257
GCDH ; SYCE2
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs771924230
rs771924230
GCDH ; SYCE2
G 0.700 CausalMutation CLINVAR

dbSNP: rs776082304
rs776082304
GCDH ; SYCE2
G 0.700 GeneticVariation CLINVAR Atypical and variable clinical presentation of glutaric aciduria type I. 11508549

2000
dbSNP: rs776082304
rs776082304
GCDH ; SYCE2
A 0.700 GeneticVariation CLINVAR Atypical and variable clinical presentation of glutaric aciduria type I. 11508549

2000
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. 28352331

2017
dbSNP: rs150938052
rs150938052
GCDH ; SYCE2
T 0.800 GeneticVariation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883

2011
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883

2011
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs150938052
rs150938052
GCDH ; SYCE2
T 0.800 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs778153326
rs778153326
GCDH ; SYCE2
C 0.800 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995