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rs1057517105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517105(A;A)
Make rs1057517105(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80112655
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517105
dbSNP (old)rs1057517105
ClinGenrs1057517105
ebirs1057517105
HLIrs1057517105
Exacrs1057517105
Gnomadrs1057517105
Varsomers1057517105
Maprs1057517105
PheGenIrs1057517105
Biobankrs1057517105
1000 genomesrs1057517105
hgdprs1057517105
ensemblrs1057517105
gopubmedrs1057517105
geneviewrs1057517105
scholarrs1057517105
googlers1057517105
pharmgkbrs1057517105
gwascentralrs1057517105
openSNPrs1057517105
23andMers1057517105
23andMe allrs1057517105
SNPshotrs1057517105
SNPdbers1057517105
MSV3drs1057517105
GWAS Ctlgrs1057517105
Max Magnitude0
ClinVar
Risk rs1057517105(A;A)
Alt rs1057517105(A;A)
Reference Rs1057517105(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086454G>A
CLNSRC
CLNACC RCV000409030.1,