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rs387907013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907013(C;T)
Make rs387907013(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50267814
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs387907013
ebirs387907013
HLIrs387907013
Exacrs387907013
Varsomers387907013
Maprs387907013
PheGenIrs387907013
hapmaprs387907013
1000 genomesrs387907013
hgdprs387907013
ensemblrs387907013
gopubmedrs387907013
geneviewrs387907013
scholarrs387907013
googlers387907013
pharmgkbrs387907013
gwascentralrs387907013
openSNPrs387907013
23andMers387907013
23andMe allrs387907013
SNP Nexus

SNPshotrs387907013
SNPdbers387907013
MSV3drs387907013
GWAS Ctlgrs387907013
Max Magnitude0
ClinVar
Risk rs387907013(T;T)
Alt rs387907013(T;T)
Reference rs387907013(C;C)
Significance Pathogenic
Disease L-2-hydroxyglutaric aciduria
Variation info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
HGVS NC_000014.8:g.50734532G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023778.5,