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rs9384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9384(G;T)
Make rs9384(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12899829
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs9384
dbSNP (classic)rs9384
ClinGenrs9384
ebirs9384
HLIrs9384
Exacrs9384
Gnomadrs9384
Varsomers9384
LitVarrs9384
Maprs9384
PheGenIrs9384
Biobankrs9384
1000 genomesrs9384
hgdprs9384
ensemblrs9384
geneviewrs9384
scholarrs9384
googlers9384
pharmgkbrs9384
gwascentralrs9384
openSNPrs9384
23andMers9384
SNPshotrs9384
SNPdbers9384
MSV3drs9384
GWAS Ctlgrs9384
Max Magnitude0
? (G;G) (G;T) (T;T) 28


ClinVar
Risk rs9384(T;T)
Alt rs9384(T;T)
Reference Rs9384(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria Glutaric acidemia
Variation info
Gene SYCE2 GCDH
CLNDBN Glutaric aciduria, type 1 Glutaric acidemia
Reversed 0
HGVS NC_000019.9:g.13010643G>T
CLNSRC
CLNACC RCV000190519.1, RCV000336585.1,