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rs1057516570

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516570(-;-)
Make rs1057516570(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99877814
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516570
dbSNP (old)rs1057516570
ClinGenrs1057516570
ebirs1057516570
HLIrs1057516570
Exacrs1057516570
Gnomadrs1057516570
Varsomers1057516570
Maprs1057516570
PheGenIrs1057516570
Biobankrs1057516570
1000 genomesrs1057516570
hgdprs1057516570
ensemblrs1057516570
gopubmedrs1057516570
geneviewrs1057516570
scholarrs1057516570
googlers1057516570
pharmgkbrs1057516570
gwascentralrs1057516570
openSNPrs1057516570
23andMers1057516570
23andMe allrs1057516570
SNPshotrs1057516570
SNPdbers1057516570
MSV3drs1057516570
GWAS Ctlgrs1057516570
Max Magnitude0
ClinVar
Risk rs1057516570(-;-)
Alt rs1057516570(-;-)
Reference Rs1057516570(CT;CT)
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.100343370_100343371delCT
CLNSRC
CLNACC RCV000409167.1,