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rs121434368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434368(C;T)
Make rs121434368(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12899471
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs121434368
ebirs121434368
HLIrs121434368
Exacrs121434368
Varsomers121434368
Maprs121434368
PheGenIrs121434368
hapmaprs121434368
1000 genomesrs121434368
hgdprs121434368
ensemblrs121434368
gopubmedrs121434368
geneviewrs121434368
scholarrs121434368
googlers121434368
pharmgkbrs121434368
gwascentralrs121434368
openSNPrs121434368
23andMers121434368
23andMe allrs121434368
SNP Nexus

SNPshotrs121434368
SNPdbers121434368
MSV3drs121434368
GWAS Ctlgrs121434368
Max Magnitude0
OMIM608801
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434368(T;T)
Alt rs121434368(T;T)
Reference rs121434368(C;C)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene SYCE2 GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13010285C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002165.2,