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rs121434360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434360(C;C)
Make rs121434360(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position241767734
GeneD2HGDH
is asnp
is mentioned by
dbSNPrs121434360
ebirs121434360
HLIrs121434360
Exacrs121434360
Varsomers121434360
Maprs121434360
PheGenIrs121434360
hapmaprs121434360
1000 genomesrs121434360
hgdprs121434360
ensemblrs121434360
gopubmedrs121434360
geneviewrs121434360
scholarrs121434360
googlers121434360
pharmgkbrs121434360
gwascentralrs121434360
openSNPrs121434360
23andMers121434360
23andMe allrs121434360
SNP Nexus

SNPshotrs121434360
SNPdbers121434360
MSV3drs121434360
GWAS Ctlgrs121434360
Max Magnitude0
OMIM609186
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434360(C;C)
Alt rs121434360(C;C)
Reference rs121434360(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.242707149T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001926.3,