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rs1057516704

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057516704(-;-)
Make rs1057516704(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80118206
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516704
dbSNP (old)rs1057516704
ClinGenrs1057516704
ebirs1057516704
HLIrs1057516704
Exacrs1057516704
Gnomadrs1057516704
Varsomers1057516704
Maprs1057516704
PheGenIrs1057516704
Biobankrs1057516704
1000 genomesrs1057516704
hgdprs1057516704
ensemblrs1057516704
gopubmedrs1057516704
geneviewrs1057516704
scholarrs1057516704
googlers1057516704
pharmgkbrs1057516704
gwascentralrs1057516704
openSNPrs1057516704
23andMers1057516704
23andMe allrs1057516704
SNPshotrs1057516704
SNPdbers1057516704
MSV3drs1057516704
GWAS Ctlgrs1057516704
Max Magnitude0
ClinVar
Risk rs1057516704(-;-)
Alt rs1057516704(-;-)
Reference Rs1057516704(CA;CA)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78092005_78092006delCA
CLNSRC
CLNACC RCV000410078.1,