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rs797045678

From SNPedia

Orientationminus
Make rs797045678(-;-)
Make rs797045678(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50294190
GeneL2HGDH
is asnp
is mentioned by
dbSNPrs797045678
ClinGenrs797045678
ebirs797045678
HLIrs797045678
Exacrs797045678
Varsomers797045678
Maprs797045678
PheGenIrs797045678
hapmaprs797045678
1000 genomesrs797045678
hgdprs797045678
ensemblrs797045678
gopubmedrs797045678
geneviewrs797045678
scholarrs797045678
googlers797045678
pharmgkbrs797045678
gwascentralrs797045678
openSNPrs797045678
23andMers797045678
23andMe allrs797045678
SNP Nexus

SNPshotrs797045678
SNPdbers797045678
MSV3drs797045678
GWAS Ctlgrs797045678
Max Magnitude
ClinVar
Risk
Alt
Reference Rs797045678(A;A)
Significance Pathogenic
Disease L-2-hydroxyglutaric aciduria
Variation info
Gene L2HGDH
CLNDBN L-2-hydroxyglutaric aciduria
Reversed 1
HGVS NC_000014.8:g.50760908delT
CLNSRC
CLNACC RCV000192366.1,