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rs121434362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434362(A;G)
Make rs121434362(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position241767718
GeneD2HGDH
is asnp
is mentioned by
dbSNPrs121434362
ebirs121434362
HLIrs121434362
Exacrs121434362
Varsomers121434362
Maprs121434362
PheGenIrs121434362
hapmaprs121434362
1000 genomesrs121434362
hgdprs121434362
ensemblrs121434362
gopubmedrs121434362
geneviewrs121434362
scholarrs121434362
googlers121434362
pharmgkbrs121434362
gwascentralrs121434362
openSNPrs121434362
23andMers121434362
23andMe allrs121434362
SNP Nexus

SNPshotrs121434362
SNPdbers121434362
MSV3drs121434362
GWAS Ctlgrs121434362
Max Magnitude0
OMIM609186
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434362(G;G)
Alt rs121434362(G;G)
Reference rs121434362(A;A)
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.242707133A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001930.3,