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rs1057516581

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516581(-;-)
Make rs1057516581(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80113362
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516581
dbSNP (old)rs1057516581
ClinGenrs1057516581
ebirs1057516581
HLIrs1057516581
Exacrs1057516581
Gnomadrs1057516581
Varsomers1057516581
Maprs1057516581
PheGenIrs1057516581
Biobankrs1057516581
1000 genomesrs1057516581
hgdprs1057516581
ensemblrs1057516581
gopubmedrs1057516581
geneviewrs1057516581
scholarrs1057516581
googlers1057516581
pharmgkbrs1057516581
gwascentralrs1057516581
openSNPrs1057516581
23andMers1057516581
23andMe allrs1057516581
SNPshotrs1057516581
SNPdbers1057516581
MSV3drs1057516581
GWAS Ctlgrs1057516581
Max Magnitude0
ClinVar
Risk rs1057516581(-;-)
Alt rs1057516581(-;-)
Reference Rs1057516581(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78087161delC
CLNSRC
CLNACC RCV000412465.1,