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rs1057516412

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516412(G;T)
Make rs1057516412(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891875
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516412
dbSNP (old)rs1057516412
ClinGenrs1057516412
ebirs1057516412
HLIrs1057516412
Exacrs1057516412
Gnomadrs1057516412
Varsomers1057516412
Maprs1057516412
PheGenIrs1057516412
Biobankrs1057516412
1000 genomesrs1057516412
hgdprs1057516412
ensemblrs1057516412
gopubmedrs1057516412
geneviewrs1057516412
scholarrs1057516412
googlers1057516412
pharmgkbrs1057516412
gwascentralrs1057516412
openSNPrs1057516412
23andMers1057516412
23andMe allrs1057516412
SNPshotrs1057516412
SNPdbers1057516412
MSV3drs1057516412
GWAS Ctlgrs1057516412
Max Magnitude0
ClinVar
Risk rs1057516412(T;T)
Alt rs1057516412(T;T)
Reference Rs1057516412(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002689G>T
CLNSRC
CLNACC RCV000412281.1,