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rs1057517410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517410(A;G)
Make rs1057517410(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896908
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057517410
dbSNP (old)rs1057517410
ClinGenrs1057517410
ebirs1057517410
HLIrs1057517410
Exacrs1057517410
Gnomadrs1057517410
Varsomers1057517410
LitVarrs1057517410
Maprs1057517410
PheGenIrs1057517410
Biobankrs1057517410
1000 genomesrs1057517410
hgdprs1057517410
ensemblrs1057517410
gopubmedrs1057517410
geneviewrs1057517410
scholarrs1057517410
googlers1057517410
pharmgkbrs1057517410
gwascentralrs1057517410
openSNPrs1057517410
23andMers1057517410
23andMe allrs1057517410
SNPshotrs1057517410
SNPdbers1057517410
MSV3drs1057517410
GWAS Ctlgrs1057517410
Max Magnitude0
ClinVar
Risk rs1057517410(G;G)
Alt rs1057517410(G;G)
Reference Rs1057517410(A;A)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007722A>G
CLNSRC
CLNACC RCV000410275.1,