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rs1057516522

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057516522(-;-)
Make rs1057516522(-;CG)
Make rs1057516522(CG;CG)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891384
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516522
dbSNP (old)rs1057516522
ClinGenrs1057516522
ebirs1057516522
HLIrs1057516522
Exacrs1057516522
Gnomadrs1057516522
Varsomers1057516522
Maprs1057516522
PheGenIrs1057516522
Biobankrs1057516522
1000 genomesrs1057516522
hgdprs1057516522
ensemblrs1057516522
gopubmedrs1057516522
geneviewrs1057516522
scholarrs1057516522
googlers1057516522
pharmgkbrs1057516522
gwascentralrs1057516522
openSNPrs1057516522
23andMers1057516522
23andMe allrs1057516522
SNPshotrs1057516522
SNPdbers1057516522
MSV3drs1057516522
GWAS Ctlgrs1057516522
Max Magnitude0
ClinVar
Risk rs1057516522(-;-)
Alt rs1057516522(-;-)
Reference Rs1057516522(GC;GC)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002198_13002199delCG
CLNSRC
CLNACC RCV000410524.1,