Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434372(A;A)
Make rs121434372(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12897818
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs121434372
dbSNP (classic)rs121434372
ClinGenrs121434372
ebirs121434372
HLIrs121434372
Exacrs121434372
Gnomadrs121434372
Varsomers121434372
LitVarrs121434372
Maprs121434372
PheGenIrs121434372
Biobankrs121434372
1000 genomesrs121434372
hgdprs121434372
ensemblrs121434372
geneviewrs121434372
scholarrs121434372
googlers121434372
pharmgkbrs121434372
gwascentralrs121434372
openSNPrs121434372
23andMers121434372
SNPshotrs121434372
SNPdbers121434372
MSV3drs121434372
GWAS Ctlgrs121434372
Max Magnitude0
OMIM608801
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434372(A;A)
Alt rs121434372(A;A)
Reference Rs121434372(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.13008632G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002169.2, RCV000224327.2,