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rs797045507

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045507(C;C)
Make rs797045507(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position241756016
GeneD2HGDH
is asnp
is mentioned by
dbSNPrs797045507
ebirs797045507
HLIrs797045507
Exacrs797045507
Varsomers797045507
Maprs797045507
PheGenIrs797045507
hapmaprs797045507
1000 genomesrs797045507
hgdprs797045507
ensemblrs797045507
gopubmedrs797045507
geneviewrs797045507
scholarrs797045507
googlers797045507
pharmgkbrs797045507
gwascentralrs797045507
openSNPrs797045507
23andMers797045507
23andMe allrs797045507
SNP Nexus

SNPshotrs797045507
SNPdbers797045507
MSV3drs797045507
GWAS Ctlgrs797045507
Max Magnitude0
ClinVar
Risk rs797045507(C;C)
Alt rs797045507(C;C)
Reference rs797045507(T;T)
Significance Probable-Pathogenic
Disease D-2-hydroxyglutaric aciduria
Variation info
Gene D2HGDH
CLNDBN D-2-hydroxyglutaric aciduria
Reversed 0
HGVS NC_000002.11:g.242695431T>C
CLNSRC
CLNACC RCV000192863.1,