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rs1057516328

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516328(A;A)
Make rs1057516328(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80116992
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516328
dbSNP (old)rs1057516328
ClinGenrs1057516328
ebirs1057516328
HLIrs1057516328
Exacrs1057516328
Gnomadrs1057516328
Varsomers1057516328
Maprs1057516328
PheGenIrs1057516328
Biobankrs1057516328
1000 genomesrs1057516328
hgdprs1057516328
ensemblrs1057516328
gopubmedrs1057516328
geneviewrs1057516328
scholarrs1057516328
googlers1057516328
pharmgkbrs1057516328
gwascentralrs1057516328
openSNPrs1057516328
23andMers1057516328
23andMe allrs1057516328
SNPshotrs1057516328
SNPdbers1057516328
MSV3drs1057516328
GWAS Ctlgrs1057516328
Max Magnitude0
ClinVar
Risk rs1057516328(A;A)
Alt rs1057516328(A;A)
Reference Rs1057516328(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.78090791G>A
CLNSRC
CLNACC RCV000409827.1,