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rs1057516994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516994(-;AA)
Make rs1057516994(AA;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99916473
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516994
dbSNP (classic)rs1057516994
ClinGenrs1057516994
ebirs1057516994
HLIrs1057516994
Exacrs1057516994
Gnomadrs1057516994
Varsomers1057516994
LitVarrs1057516994
Maprs1057516994
PheGenIrs1057516994
Biobankrs1057516994
1000 genomesrs1057516994
hgdprs1057516994
ensemblrs1057516994
geneviewrs1057516994
scholarrs1057516994
googlers1057516994
pharmgkbrs1057516994
gwascentralrs1057516994
openSNPrs1057516994
23andMers1057516994
SNPshotrs1057516994
SNPdbers1057516994
MSV3drs1057516994
GWAS Ctlgrs1057516994
Max Magnitude0
ClinVar
Risk rs1057516994(AA;AA)
Alt rs1057516994(AA;AA)
Reference Rs1057516994(-;-)
Significance Pathogenic
Disease Glycogen storage disease type III not provided
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III not provided
Reversed 0
HGVS NC_000001.10:g.100382028_100382029dupAA
CLNSRC
CLNACC RCV000409602.1, RCV000481572.1,