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rs1057517320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517320(-;-)
Make rs1057517320(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80105057
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517320
dbSNP (classic)rs1057517320
ClinGenrs1057517320
ebirs1057517320
HLIrs1057517320
Exacrs1057517320
Gnomadrs1057517320
Varsomers1057517320
LitVarrs1057517320
Maprs1057517320
PheGenIrs1057517320
Biobankrs1057517320
1000 genomesrs1057517320
hgdprs1057517320
ensemblrs1057517320
geneviewrs1057517320
scholarrs1057517320
googlers1057517320
pharmgkbrs1057517320
gwascentralrs1057517320
openSNPrs1057517320
23andMers1057517320
23andMe allrs1057517320
SNPshotrs1057517320
SNPdbers1057517320
MSV3drs1057517320
GWAS Ctlgrs1057517320
Max Magnitude0
ClinVar
Risk rs1057517320(-;-)
Alt rs1057517320(-;-)
Reference Rs1057517320(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.78078856delC
CLNSRC
CLNACC RCV000411817.1,