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rs1057517088

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517088(-;-)
Make rs1057517088(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891901
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057517088
dbSNP (old)rs1057517088
ClinGenrs1057517088
ebirs1057517088
HLIrs1057517088
Exacrs1057517088
Gnomadrs1057517088
Varsomers1057517088
Maprs1057517088
PheGenIrs1057517088
Biobankrs1057517088
1000 genomesrs1057517088
hgdprs1057517088
ensemblrs1057517088
gopubmedrs1057517088
geneviewrs1057517088
scholarrs1057517088
googlers1057517088
pharmgkbrs1057517088
gwascentralrs1057517088
openSNPrs1057517088
23andMers1057517088
23andMe allrs1057517088
SNPshotrs1057517088
SNPdbers1057517088
MSV3drs1057517088
GWAS Ctlgrs1057517088
Max Magnitude0
ClinVar
Risk rs1057517088(-;-)
Alt rs1057517088(-;-)
Reference Rs1057517088(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002715delC
CLNSRC
CLNACC RCV000409879.1,