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rs398123194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123194(A;G)
Make rs398123194(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12896028
GeneGCDH
is asnp
is mentioned by
dbSNPrs398123194
dbSNP (classic)rs398123194
ClinGenrs398123194
ebirs398123194
HLIrs398123194
Exacrs398123194
Gnomadrs398123194
Varsomers398123194
LitVarrs398123194
Maprs398123194
PheGenIrs398123194
Biobankrs398123194
1000 genomesrs398123194
hgdprs398123194
ensemblrs398123194
geneviewrs398123194
scholarrs398123194
googlers398123194
pharmgkbrs398123194
gwascentralrs398123194
openSNPrs398123194
23andMers398123194
SNPshotrs398123194
SNPdbers398123194
MSV3drs398123194
GWAS Ctlgrs398123194
Max Magnitude0
ClinVar
Risk rs398123194(G;G)
Alt rs398123194(G;G)
Reference Rs398123194(A;A)
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.13006842A>G
CLNSRC HGMD
CLNACC RCV000078254.3, RCV000179724.1,