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rs878853244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853244(-;-)
Make rs878853244(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12896300
GeneGCDH
is asnp
is mentioned by
dbSNPrs878853244
dbSNP (classic)rs878853244
ClinGenrs878853244
ebirs878853244
HLIrs878853244
Exacrs878853244
Gnomadrs878853244
Varsomers878853244
LitVarrs878853244
Maprs878853244
PheGenIrs878853244
Biobankrs878853244
1000 genomesrs878853244
hgdprs878853244
ensemblrs878853244
geneviewrs878853244
scholarrs878853244
googlers878853244
pharmgkbrs878853244
gwascentralrs878853244
openSNPrs878853244
23andMers878853244
SNPshotrs878853244
SNPdbers878853244
MSV3drs878853244
GWAS Ctlgrs878853244
Max Magnitude0
ClinVar
Risk rs878853244(-;-)
Alt rs878853244(-;-)
Reference Rs878853244(G;G)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007114delG
CLNSRC
CLNACC RCV000225074.1,