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rs121434370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434370(A;A)
Make rs121434370(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12897713
GeneGCDH
is asnp
is mentioned by
dbSNPrs121434370
dbSNP (classic)rs121434370
ClinGenrs121434370
ebirs121434370
HLIrs121434370
Exacrs121434370
Gnomadrs121434370
Varsomers121434370
LitVarrs121434370
Maprs121434370
PheGenIrs121434370
Biobankrs121434370
1000 genomesrs121434370
hgdprs121434370
ensemblrs121434370
geneviewrs121434370
scholarrs121434370
googlers121434370
pharmgkbrs121434370
gwascentralrs121434370
openSNPrs121434370
23andMers121434370
SNPshotrs121434370
SNPdbers121434370
MSV3drs121434370
GWAS Ctlgrs121434370
Max Magnitude0
OMIM608801
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434370(A;A)
Alt rs121434370(A;A)
Reference Rs121434370(G;G)
Significance Pathogenic
Disease Glutaric aciduria not provided
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1 not provided
Reversed 0
HGVS NC_000019.9:g.13008527G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002167.3, RCV000224528.1,