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rs1057516659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516659(-;G)
Make rs1057516659(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117020
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516659
dbSNP (classic)rs1057516659
ClinGenrs1057516659
ebirs1057516659
HLIrs1057516659
Exacrs1057516659
Gnomadrs1057516659
Varsomers1057516659
LitVarrs1057516659
Maprs1057516659
PheGenIrs1057516659
Biobankrs1057516659
1000 genomesrs1057516659
hgdprs1057516659
ensemblrs1057516659
geneviewrs1057516659
scholarrs1057516659
googlers1057516659
pharmgkbrs1057516659
gwascentralrs1057516659
openSNPrs1057516659
23andMers1057516659
23andMe allrs1057516659
SNPshotrs1057516659
SNPdbers1057516659
MSV3drs1057516659
GWAS Ctlgrs1057516659
Max Magnitude0
ClinVar
Risk rs1057516659(G;G)
Alt rs1057516659(G;G)
Reference Rs1057516659(-;-)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78090819dupG
CLNSRC
CLNACC RCV000411023.1,