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rs1057517146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517146(C;G)
Make rs1057517146(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80110953
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517146
dbSNP (old)rs1057517146
ClinGenrs1057517146
ebirs1057517146
HLIrs1057517146
Exacrs1057517146
Gnomadrs1057517146
Varsomers1057517146
LitVarrs1057517146
Maprs1057517146
PheGenIrs1057517146
Biobankrs1057517146
1000 genomesrs1057517146
hgdprs1057517146
ensemblrs1057517146
gopubmedrs1057517146
geneviewrs1057517146
scholarrs1057517146
googlers1057517146
pharmgkbrs1057517146
gwascentralrs1057517146
openSNPrs1057517146
23andMers1057517146
23andMe allrs1057517146
SNPshotrs1057517146
SNPdbers1057517146
MSV3drs1057517146
GWAS Ctlgrs1057517146
Max Magnitude0
ClinVar
Risk rs1057517146(G;G)
Alt rs1057517146(G;G)
Reference Rs1057517146(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.78084752C>G
CLNSRC
CLNACC RCV000410150.1,