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rs878853154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a Glutaric aciduria type I mutation
Make rs878853154(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12893579
GeneGCDH
is asnp
is mentioned by
dbSNPrs878853154
dbSNP (classic)rs878853154
ClinGenrs878853154
ebirs878853154
HLIrs878853154
Exacrs878853154
Gnomadrs878853154
Varsomers878853154
LitVarrs878853154
Maprs878853154
PheGenIrs878853154
Biobankrs878853154
1000 genomesrs878853154
hgdprs878853154
ensemblrs878853154
geneviewrs878853154
scholarrs878853154
googlers878853154
pharmgkbrs878853154
gwascentralrs878853154
openSNPrs878853154
23andMers878853154
SNPshotrs878853154
SNPdbers878853154
MSV3drs878853154
GWAS Ctlgrs878853154
Max Magnitude3
ClinVar
Risk rs878853154(C;C)
Alt rs878853154(C;C)
Reference Rs878853154(A;A)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004393A>C
CLNSRC
CLNACC RCV000224360.1,