Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434360
rs121434360
D2HGDH
0.800 GeneticVariation UNIPROT Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. 16081310

2006
dbSNP: rs121434361
rs121434361
D2HGDH
0.800 GeneticVariation UNIPROT Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. 16081310

2006
dbSNP: rs121434362
rs121434362
D2HGDH
0.800 GeneticVariation UNIPROT Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. 16081310

2006
dbSNP: rs121434360
rs121434360
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. 15609246

2005
dbSNP: rs121434360
rs121434360
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. 16037974

2005
dbSNP: rs121434361
rs121434361
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. 16037974

2005
dbSNP: rs121434361
rs121434361
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. 15609246

2005
dbSNP: rs121434362
rs121434362
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. 15609246

2005
dbSNP: rs121434362
rs121434362
D2HGDH
0.800 GeneticVariation UNIPROT Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. 16037974

2005
dbSNP: rs121434360
rs121434360
D2HGDH
C 0.800 CausalMutation CLINVAR

dbSNP: rs121434361
rs121434361
D2HGDH
G 0.800 CausalMutation CLINVAR

dbSNP: rs121434362
rs121434362
D2HGDH
G 0.800 CausalMutation CLINVAR

dbSNP: rs267606759
rs267606759
D2HGDH
0.800 GeneticVariation UNIPROT

dbSNP: rs267606759
rs267606759
D2HGDH
T 0.800 CausalMutation CLINVAR

dbSNP: rs1559364994
rs1559364994
D2HGDH
C 0.700 GeneticVariation CLINVAR Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. 21384162

2011
dbSNP: rs1559361049
rs1559361049
D2HGDH
C 0.700 CausalMutation CLINVAR Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. 20020533

2010
dbSNP: rs1559364994
rs1559364994
D2HGDH
C 0.700 GeneticVariation CLINVAR Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. 20020533

2010
dbSNP: rs1559364994
rs1559364994
D2HGDH
C 0.700 GeneticVariation CLINVAR Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. 16081310

2006
dbSNP: rs145731647
rs145731647
D2HGDH
G 0.700 CausalMutation CLINVAR

dbSNP: rs587783517
rs587783517
D2HGDH
T 0.700 CausalMutation CLINVAR

dbSNP: rs749330477
rs749330477
D2HGDH
GTC 0.700 CausalMutation CLINVAR

dbSNP: rs753528947
rs753528947
D2HGDH
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913502
rs121913502
IDH2
0.010 GeneticVariation BEFREE To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therapeutic strategies, we developed a specific and sensitive IDH2(wt/R140Q) enzyme assay in lymphoblasts. 21889589

2011
dbSNP: rs267606870
rs267606870
IDH2
0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589

2011
dbSNP: rs1025426883
rs1025426883
L2HGDH
0.010 GeneticVariation BEFREE The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. 15248096

2004