Have questions? Visit https://www.reddit.com/r/SNPedia

rs118204021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204021(A;A)
Make rs118204021(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50302994
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs118204021
dbSNP (classic)rs118204021
ClinGenrs118204021
ebirs118204021
HLIrs118204021
Exacrs118204021
Gnomadrs118204021
Varsomers118204021
LitVarrs118204021
Maprs118204021
PheGenIrs118204021
Biobankrs118204021
1000 genomesrs118204021
hgdprs118204021
ensemblrs118204021
geneviewrs118204021
scholarrs118204021
googlers118204021
pharmgkbrs118204021
gwascentralrs118204021
openSNPrs118204021
23andMers118204021
SNPshotrs118204021
SNPdbers118204021
MSV3drs118204021
GWAS Ctlgrs118204021
Max Magnitude0
OMIM609584
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204021(A;A)
Alt rs118204021(A;A)
Reference Rs118204021(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.50769712C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001677.3,