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rs267607206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607206(A;G)
Make rs267607206(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50302132
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs267607206
ebirs267607206
HLIrs267607206
Exacrs267607206
Varsomers267607206
Maprs267607206
PheGenIrs267607206
hapmaprs267607206
1000 genomesrs267607206
hgdprs267607206
ensemblrs267607206
gopubmedrs267607206
geneviewrs267607206
scholarrs267607206
googlers267607206
pharmgkbrs267607206
gwascentralrs267607206
openSNPrs267607206
23andMers267607206
23andMe allrs267607206
SNP Nexus

SNPshotrs267607206
SNPdbers267607206
MSV3drs267607206
GWAS Ctlgrs267607206
Max Magnitude0
ClinVar
Risk rs267607206(G;G)
Alt rs267607206(G;G)
Reference rs267607206(A;A)
Significance Pathogenic
Disease L-2-hydroxyglutaric aciduria
Variation info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
HGVS NC_000014.8:g.50768850T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001679.3,