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rs587783517

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783517(C;T)
Make rs587783517(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position241743697
GeneD2HGDH
is asnp
is mentioned by
dbSNPrs587783517
ebirs587783517
HLIrs587783517
Exacrs587783517
Varsomers587783517
Maprs587783517
PheGenIrs587783517
hapmaprs587783517
1000 genomesrs587783517
hgdprs587783517
ensemblrs587783517
gopubmedrs587783517
geneviewrs587783517
scholarrs587783517
googlers587783517
pharmgkbrs587783517
gwascentralrs587783517
openSNPrs587783517
23andMers587783517
23andMe allrs587783517
SNP Nexus

SNPshotrs587783517
SNPdbers587783517
MSV3drs587783517
GWAS Ctlgrs587783517
Max Magnitude0
ClinVar
Risk rs587783517(T;T)
Alt rs587783517(T;T)
Reference rs587783517(C;C)
Significance Pathogenic
Disease D-2-hydroxyglutaric aciduria 1
Variation info
Gene D2HGDH
CLNDBN D-2-hydroxyglutaric aciduria 1
Reversed 0
HGVS NC_000002.11:g.242683112C>T
CLNSRC
CLNACC RCV000145803.1,