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rs1057516708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516708(C;C)
Make rs1057516708(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99881179
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516708
dbSNP (old)rs1057516708
ClinGenrs1057516708
ebirs1057516708
HLIrs1057516708
Exacrs1057516708
Gnomadrs1057516708
Varsomers1057516708
Maprs1057516708
PheGenIrs1057516708
Biobankrs1057516708
1000 genomesrs1057516708
hgdprs1057516708
ensemblrs1057516708
gopubmedrs1057516708
geneviewrs1057516708
scholarrs1057516708
googlers1057516708
pharmgkbrs1057516708
gwascentralrs1057516708
openSNPrs1057516708
23andMers1057516708
23andMe allrs1057516708
SNPshotrs1057516708
SNPdbers1057516708
MSV3drs1057516708
GWAS Ctlgrs1057516708
Max Magnitude0
ClinVar
Risk rs1057516708(C;C)
Alt rs1057516708(C;C)
Reference Rs1057516708(T;T)
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.100346735T>C
CLNSRC
CLNACC RCV000411342.1,