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rs768925619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs768925619(A;A)
Make rs768925619(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12897406
GeneGCDH
is asnp
is mentioned by
dbSNPrs768925619
dbSNP (classic)rs768925619
ClinGenrs768925619
ebirs768925619
HLIrs768925619
Exacrs768925619
Gnomadrs768925619
Varsomers768925619
LitVarrs768925619
Maprs768925619
PheGenIrs768925619
Biobankrs768925619
1000 genomesrs768925619
hgdprs768925619
ensemblrs768925619
geneviewrs768925619
scholarrs768925619
googlers768925619
pharmgkbrs768925619
gwascentralrs768925619
openSNPrs768925619
23andMers768925619
SNPshotrs768925619
SNPdbers768925619
MSV3drs768925619
GWAS Ctlgrs768925619
Max Magnitude0
ClinVar
Risk rs768925619(A;A)
Alt rs768925619(A;A)
Reference Rs768925619(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008220G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169320.1,