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rs1057516327

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516327(A;A)
Make rs1057516327(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80116991
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516327
dbSNP (old)rs1057516327
ClinGenrs1057516327
ebirs1057516327
HLIrs1057516327
Exacrs1057516327
Gnomadrs1057516327
Varsomers1057516327
Maprs1057516327
PheGenIrs1057516327
Biobankrs1057516327
1000 genomesrs1057516327
hgdprs1057516327
ensemblrs1057516327
gopubmedrs1057516327
geneviewrs1057516327
scholarrs1057516327
googlers1057516327
pharmgkbrs1057516327
gwascentralrs1057516327
openSNPrs1057516327
23andMers1057516327
23andMe allrs1057516327
SNPshotrs1057516327
SNPdbers1057516327
MSV3drs1057516327
GWAS Ctlgrs1057516327
Max Magnitude0
ClinVar
Risk rs1057516327(A;A)
Alt rs1057516327(A;A)
Reference Rs1057516327(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.78090790G>A
CLNSRC
CLNACC RCV000411759.1,