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rs1057517286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517286(-;-)
Make rs1057517286(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108606
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517286
dbSNP (old)rs1057517286
ClinGenrs1057517286
ebirs1057517286
HLIrs1057517286
Exacrs1057517286
Gnomadrs1057517286
Varsomers1057517286
LitVarrs1057517286
Maprs1057517286
PheGenIrs1057517286
Biobankrs1057517286
1000 genomesrs1057517286
hgdprs1057517286
ensemblrs1057517286
gopubmedrs1057517286
geneviewrs1057517286
scholarrs1057517286
googlers1057517286
pharmgkbrs1057517286
gwascentralrs1057517286
openSNPrs1057517286
23andMers1057517286
23andMe allrs1057517286
SNPshotrs1057517286
SNPdbers1057517286
MSV3drs1057517286
GWAS Ctlgrs1057517286
Max Magnitude0
ClinVar
Risk rs1057517286(-;-)
Alt rs1057517286(-;-)
Reference Rs1057517286(T;T)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082405delT
CLNSRC
CLNACC RCV000410060.1,