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rs121434361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434361(G;G)
Make rs121434361(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position241742524
GeneD2HGDH
is asnp
is mentioned by
dbSNPrs121434361
ebirs121434361
HLIrs121434361
Exacrs121434361
Varsomers121434361
Maprs121434361
PheGenIrs121434361
hapmaprs121434361
1000 genomesrs121434361
hgdprs121434361
ensemblrs121434361
gopubmedrs121434361
geneviewrs121434361
scholarrs121434361
googlers121434361
pharmgkbrs121434361
gwascentralrs121434361
openSNPrs121434361
23andMers121434361
23andMe allrs121434361
SNP Nexus

SNPshotrs121434361
SNPdbers121434361
MSV3drs121434361
GWAS Ctlgrs121434361
Max Magnitude0
OMIM609186
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434361(G;G)
Alt rs121434361(G;G)
Reference rs121434361(T;T)
Significance Pathogenic
Disease D-2-hydroxyglutaric aciduria 1
Variation info
Gene D2HGDH
CLNDBN D-2-hydroxyglutaric aciduria 1
Reversed 0
HGVS NC_000002.11:g.242681939T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001927.3,