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rs398123195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123195(A;A)
Make rs398123195(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12896204
GeneGCDH
is asnp
is mentioned by
dbSNPrs398123195
dbSNP (classic)rs398123195
ClinGenrs398123195
ebirs398123195
HLIrs398123195
Exacrs398123195
Gnomadrs398123195
Varsomers398123195
LitVarrs398123195
Maprs398123195
PheGenIrs398123195
Biobankrs398123195
1000 genomesrs398123195
hgdprs398123195
ensemblrs398123195
geneviewrs398123195
scholarrs398123195
googlers398123195
pharmgkbrs398123195
gwascentralrs398123195
openSNPrs398123195
23andMers398123195
SNPshotrs398123195
SNPdbers398123195
MSV3drs398123195
GWAS Ctlgrs398123195
Max Magnitude0
ClinVar
Risk rs398123195(A;A)
Alt rs398123195(A;A)
Reference Rs398123195(G;G)
Significance Pathogenic
Disease not provided Glutaric aciduria
Variation info
Gene GCDH
CLNDBN not provided Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007018G>A
CLNSRC HGMD
CLNACC RCV000078255.3, RCV000180102.1,