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rs1057517417

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517417(A;A)
Make rs1057517417(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80104552
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517417
dbSNP (old)rs1057517417
ClinGenrs1057517417
ebirs1057517417
HLIrs1057517417
Exacrs1057517417
Gnomadrs1057517417
Varsomers1057517417
Maprs1057517417
PheGenIrs1057517417
Biobankrs1057517417
1000 genomesrs1057517417
hgdprs1057517417
ensemblrs1057517417
gopubmedrs1057517417
geneviewrs1057517417
scholarrs1057517417
googlers1057517417
pharmgkbrs1057517417
gwascentralrs1057517417
openSNPrs1057517417
23andMers1057517417
23andMe allrs1057517417
SNPshotrs1057517417
SNPdbers1057517417
MSV3drs1057517417
GWAS Ctlgrs1057517417
Max Magnitude0
ClinVar
Risk rs1057517417(A;A)
Alt rs1057517417(A;A)
Reference Rs1057517417(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.78078351C>A
CLNSRC
CLNACC RCV000412452.1,