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

rs1057516939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516939(-;-)
Make rs1057516939(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12891383
GeneGCDH
is asnp
is mentioned by
dbSNPrs1057516939
dbSNP (old)rs1057516939
ClinGenrs1057516939
ebirs1057516939
HLIrs1057516939
Exacrs1057516939
Gnomadrs1057516939
Varsomers1057516939
Maprs1057516939
PheGenIrs1057516939
Biobankrs1057516939
1000 genomesrs1057516939
hgdprs1057516939
ensemblrs1057516939
gopubmedrs1057516939
geneviewrs1057516939
scholarrs1057516939
googlers1057516939
pharmgkbrs1057516939
gwascentralrs1057516939
openSNPrs1057516939
23andMers1057516939
23andMe allrs1057516939
SNPshotrs1057516939
SNPdbers1057516939
MSV3drs1057516939
GWAS Ctlgrs1057516939
Max Magnitude0
ClinVar
Risk rs1057516939(-;-)
Alt rs1057516939(-;-)
Reference Rs1057516939(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13002197delG
CLNSRC
CLNACC RCV000409365.1,