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rs1057517057

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517057(-;-)
Make rs1057517057(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99851106
GeneAGL
is asnp
is mentioned by
dbSNPrs1057517057
dbSNP (old)rs1057517057
ClinGenrs1057517057
ebirs1057517057
HLIrs1057517057
Exacrs1057517057
Gnomadrs1057517057
Varsomers1057517057
Maprs1057517057
PheGenIrs1057517057
Biobankrs1057517057
1000 genomesrs1057517057
hgdprs1057517057
ensemblrs1057517057
gopubmedrs1057517057
geneviewrs1057517057
scholarrs1057517057
googlers1057517057
pharmgkbrs1057517057
gwascentralrs1057517057
openSNPrs1057517057
23andMers1057517057
23andMe allrs1057517057
SNPshotrs1057517057
SNPdbers1057517057
MSV3drs1057517057
GWAS Ctlgrs1057517057
Max Magnitude0
ClinVar
Risk rs1057517057(-;-)
Alt rs1057517057(-;-)
Reference Rs1057517057(C;C)
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.100316662delC
CLNSRC
CLNACC RCV000410625.1,