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rs786200870

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200870(G;T)
Make rs786200870(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50269162
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs786200870
ebirs786200870
HLIrs786200870
Exacrs786200870
Varsomers786200870
Maprs786200870
PheGenIrs786200870
hapmaprs786200870
1000 genomesrs786200870
hgdprs786200870
ensemblrs786200870
gopubmedrs786200870
geneviewrs786200870
scholarrs786200870
googlers786200870
pharmgkbrs786200870
gwascentralrs786200870
openSNPrs786200870
23andMers786200870
23andMe allrs786200870
SNP Nexus

SNPshotrs786200870
SNPdbers786200870
MSV3drs786200870
GWAS Ctlgrs786200870
Max Magnitude0
ClinVar
Risk rs786200870(T;T)
Alt rs786200870(T;T)
Reference rs786200870(G;G)
Significance Pathogenic
Disease L-2-hydroxyglutaric aciduria
Variation info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
HGVS NC_000014.8:g.50735880C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001676.3,