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rs121434366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434366(C;C)
Make rs121434366(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12896940
GeneGCDH
is asnp
is mentioned by
dbSNPrs121434366
ebirs121434366
HLIrs121434366
Exacrs121434366
Varsomers121434366
Maprs121434366
PheGenIrs121434366
hapmaprs121434366
1000 genomesrs121434366
hgdprs121434366
ensemblrs121434366
gopubmedrs121434366
geneviewrs121434366
scholarrs121434366
googlers121434366
pharmgkbrs121434366
gwascentralrs121434366
openSNPrs121434366
23andMers121434366
23andMe allrs121434366
SNP Nexus

SNPshotrs121434366
SNPdbers121434366
MSV3drs121434366
GWAS Ctlgrs121434366
Max Magnitude0
OMIM608801
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434366(C;C)
Alt rs121434366(C;C)
Reference rs121434366(T;T)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007754T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002162.2,