Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516521(-;-)
Make rs1057516521(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891922
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516521
dbSNP (old)rs1057516521
ClinGenrs1057516521
ebirs1057516521
HLIrs1057516521
Exacrs1057516521
Gnomadrs1057516521
Varsomers1057516521
LitVarrs1057516521
Maprs1057516521
PheGenIrs1057516521
Biobankrs1057516521
1000 genomesrs1057516521
hgdprs1057516521
ensemblrs1057516521
gopubmedrs1057516521
geneviewrs1057516521
scholarrs1057516521
googlers1057516521
pharmgkbrs1057516521
gwascentralrs1057516521
openSNPrs1057516521
23andMers1057516521
23andMe allrs1057516521
SNPshotrs1057516521
SNPdbers1057516521
MSV3drs1057516521
GWAS Ctlgrs1057516521
Max Magnitude0
ClinVar
Risk rs1057516521(-;-)
Alt rs1057516521(-;-)
Reference Rs1057516521(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002736delC
CLNSRC
CLNACC RCV000409366.1,