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rs121434373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434373(C;C)
Make rs121434373(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12896249
GeneGCDH
is asnp
is mentioned by
dbSNPrs121434373
dbSNP (classic)rs121434373
ClinGenrs121434373
ebirs121434373
HLIrs121434373
Exacrs121434373
Gnomadrs121434373
Varsomers121434373
LitVarrs121434373
Maprs121434373
PheGenIrs121434373
Biobankrs121434373
1000 genomesrs121434373
hgdprs121434373
ensemblrs121434373
geneviewrs121434373
scholarrs121434373
googlers121434373
pharmgkbrs121434373
gwascentralrs121434373
openSNPrs121434373
23andMers121434373
SNPshotrs121434373
SNPdbers121434373
MSV3drs121434373
GWAS Ctlgrs121434373
Max Magnitude0
OMIM608801
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434373(A;A) rs121434373(C;C)
Alt rs121434373(A;A) rs121434373(C;C)
Reference Rs121434373(G;G)
Significance Other
Disease Glutaric aciduria not provided Glutaric acidemia
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1 not provided Glutaric acidemia
Reversed 0
HGVS NC_000019.9:g.13007063G>C
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002170.4, RCV000078256.3, RCV000358310.1,