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rs1057516344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516344(C;T)
Make rs1057516344(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896312
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516344
dbSNP (old)rs1057516344
ClinGenrs1057516344
ebirs1057516344
HLIrs1057516344
Exacrs1057516344
Gnomadrs1057516344
Varsomers1057516344
Maprs1057516344
PheGenIrs1057516344
Biobankrs1057516344
1000 genomesrs1057516344
hgdprs1057516344
ensemblrs1057516344
gopubmedrs1057516344
geneviewrs1057516344
scholarrs1057516344
googlers1057516344
pharmgkbrs1057516344
gwascentralrs1057516344
openSNPrs1057516344
23andMers1057516344
23andMe allrs1057516344
SNPshotrs1057516344
SNPdbers1057516344
MSV3drs1057516344
GWAS Ctlgrs1057516344
Max Magnitude0
ClinVar
Risk rs1057516344(T;T)
Alt rs1057516344(T;T)
Reference Rs1057516344(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007126C>T
CLNSRC
CLNACC RCV000411040.1,