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rs1057516793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516793(A;A)
Make rs1057516793(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99891605
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516793
dbSNP (old)rs1057516793
ClinGenrs1057516793
ebirs1057516793
HLIrs1057516793
Exacrs1057516793
Gnomadrs1057516793
Varsomers1057516793
Maprs1057516793
PheGenIrs1057516793
Biobankrs1057516793
1000 genomesrs1057516793
hgdprs1057516793
ensemblrs1057516793
gopubmedrs1057516793
geneviewrs1057516793
scholarrs1057516793
googlers1057516793
pharmgkbrs1057516793
gwascentralrs1057516793
openSNPrs1057516793
23andMers1057516793
23andMe allrs1057516793
SNPshotrs1057516793
SNPdbers1057516793
MSV3drs1057516793
GWAS Ctlgrs1057516793
Max Magnitude0
ClinVar
Risk rs1057516793(A;A)
Alt rs1057516793(A;A)
Reference Rs1057516793(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100357161G>A
CLNSRC
CLNACC RCV000412447.1,