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rs786200869

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786200869(-;-)
Make rs786200869(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50265439
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs786200869
ebirs786200869
HLIrs786200869
Exacrs786200869
Varsomers786200869
Maprs786200869
PheGenIrs786200869
hapmaprs786200869
1000 genomesrs786200869
hgdprs786200869
ensemblrs786200869
gopubmedrs786200869
geneviewrs786200869
scholarrs786200869
googlers786200869
pharmgkbrs786200869
gwascentralrs786200869
openSNPrs786200869
23andMers786200869
23andMe allrs786200869
SNP Nexus

SNPshotrs786200869
SNPdbers786200869
MSV3drs786200869
GWAS Ctlgrs786200869
Max Magnitude0
ClinVar
Risk rs786200869(;)
Alt rs786200869(;)
Reference rs786200869(T;T)
Significance Pathogenic
Disease L-2-hydroxyglutaric aciduria
Variation info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
HGVS NC_000014.8:g.50732157delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001675.3,