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rs1057516234

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516234(C;T)
Make rs1057516234(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891929
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516234
dbSNP (old)rs1057516234
ClinGenrs1057516234
ebirs1057516234
HLIrs1057516234
Exacrs1057516234
Gnomadrs1057516234
Varsomers1057516234
Maprs1057516234
PheGenIrs1057516234
Biobankrs1057516234
1000 genomesrs1057516234
hgdprs1057516234
ensemblrs1057516234
gopubmedrs1057516234
geneviewrs1057516234
scholarrs1057516234
googlers1057516234
pharmgkbrs1057516234
gwascentralrs1057516234
openSNPrs1057516234
23andMers1057516234
23andMe allrs1057516234
SNPshotrs1057516234
SNPdbers1057516234
MSV3drs1057516234
GWAS Ctlgrs1057516234
Max Magnitude0
ClinVar
Risk rs1057516234(T;T)
Alt rs1057516234(T;T)
Reference Rs1057516234(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002743C>T
CLNSRC
CLNACC RCV000410967.1,