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rs1057517407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517407(-;-)
Make rs1057517407(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896930
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057517407
dbSNP (old)rs1057517407
ClinGenrs1057517407
ebirs1057517407
HLIrs1057517407
Exacrs1057517407
Gnomadrs1057517407
Varsomers1057517407
Maprs1057517407
PheGenIrs1057517407
Biobankrs1057517407
1000 genomesrs1057517407
hgdprs1057517407
ensemblrs1057517407
gopubmedrs1057517407
geneviewrs1057517407
scholarrs1057517407
googlers1057517407
pharmgkbrs1057517407
gwascentralrs1057517407
openSNPrs1057517407
23andMers1057517407
23andMe allrs1057517407
SNPshotrs1057517407
SNPdbers1057517407
MSV3drs1057517407
GWAS Ctlgrs1057517407
Max Magnitude0
ClinVar
Risk rs1057517407(-;-)
Alt rs1057517407(-;-)
Reference Rs1057517407(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007744delC
CLNSRC
CLNACC RCV000412413.1,