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Rs118204021

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Orientationminus
is asnp
is mentioned by
dbSNPrs118204021
PheGenIrs118204021
nextbiors118204021
hapmaprs118204021
1000 genomesrs118204021
hgdprs118204021
ensemblrs118204021
gopubmedrs118204021
geneviewrs118204021
scholarrs118204021
googlers118204021
pharmgkbrs118204021
gwascentralrs118204021
openSNPrs118204021
23andMers118204021
23andMe allrs118204021
SNP Nexus

SNPshotrs118204021
SNPdbers118204021
MSV3drs118204021
GeneL2HGDH
Chromosome14
Orientationminus
Position50302994
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204021(A;A)
Make rs118204021(A;G)
OMIM609584
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204021(A;A)
Alt rs118204021(A;A)
Reference rs118204021(G;G)
Significance 5
Disease L-2-hydroxyglutaric aciduria
ClinVar info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
CLNHGVS NC_000014.8:g.50769712C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001677.1