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rs1057516715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516715(G;T)
Make rs1057516715(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896000
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516715
dbSNP (old)rs1057516715
ClinGenrs1057516715
ebirs1057516715
HLIrs1057516715
Exacrs1057516715
Gnomadrs1057516715
Varsomers1057516715
LitVarrs1057516715
Maprs1057516715
PheGenIrs1057516715
Biobankrs1057516715
1000 genomesrs1057516715
hgdprs1057516715
ensemblrs1057516715
gopubmedrs1057516715
geneviewrs1057516715
scholarrs1057516715
googlers1057516715
pharmgkbrs1057516715
gwascentralrs1057516715
openSNPrs1057516715
23andMers1057516715
23andMe allrs1057516715
SNPshotrs1057516715
SNPdbers1057516715
MSV3drs1057516715
GWAS Ctlgrs1057516715
Max Magnitude0
ClinVar
Risk rs1057516715(T;T)
Alt rs1057516715(T;T)
Reference Rs1057516715(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13006814G>T
CLNSRC
CLNACC RCV000412058.1,