Rs118204020

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204020(C;T)
Make rs118204020(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50269164
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs118204020
Exacrs118204020
PheGenIrs118204020
nextbiors118204020
hapmaprs118204020
1000 genomesrs118204020
hgdprs118204020
ensemblrs118204020
gopubmedrs118204020
geneviewrs118204020
scholarrs118204020
googlers118204020
pharmgkbrs118204020
gwascentralrs118204020
openSNPrs118204020
23andMers118204020
23andMe allrs118204020
SNP Nexus

SNPshotrs118204020
SNPdbers118204020
MSV3drs118204020
Max Magnitude0
OMIM609584
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204020(T;T)
Alt rs118204020(T;T)
Reference rs118204020(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.50735882G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001674.1,