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

rs121434371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434371(A;A)
Make rs121434371(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12896934
GeneGCDH
is asnp
is mentioned by
dbSNPrs121434371
dbSNP (classic)rs121434371
ClinGenrs121434371
ebirs121434371
HLIrs121434371
Exacrs121434371
Gnomadrs121434371
Varsomers121434371
LitVarrs121434371
Maprs121434371
PheGenIrs121434371
Biobankrs121434371
1000 genomesrs121434371
hgdprs121434371
ensemblrs121434371
geneviewrs121434371
scholarrs121434371
googlers121434371
pharmgkbrs121434371
gwascentralrs121434371
openSNPrs121434371
23andMers121434371
SNPshotrs121434371
SNPdbers121434371
MSV3drs121434371
GWAS Ctlgrs121434371
Max Magnitude0
OMIM608801
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434371(A;A) rs121434371(T;T)
Alt rs121434371(A;A) rs121434371(T;T)
Reference Rs121434371(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.13007748G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002164.3, RCV000153311.2,