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rs1057517308

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057517308(-;-)
Make rs1057517308(-;GT)
Make rs1057517308(GT;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80119287
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517308
dbSNP (old)rs1057517308
ClinGenrs1057517308
ebirs1057517308
HLIrs1057517308
Exacrs1057517308
Gnomadrs1057517308
Varsomers1057517308
Maprs1057517308
PheGenIrs1057517308
Biobankrs1057517308
1000 genomesrs1057517308
hgdprs1057517308
ensemblrs1057517308
gopubmedrs1057517308
geneviewrs1057517308
scholarrs1057517308
googlers1057517308
pharmgkbrs1057517308
gwascentralrs1057517308
openSNPrs1057517308
23andMers1057517308
23andMe allrs1057517308
SNPshotrs1057517308
SNPdbers1057517308
MSV3drs1057517308
GWAS Ctlgrs1057517308
Max Magnitude0
ClinVar
Risk rs1057517308(-;-)
Alt rs1057517308(-;-)
Reference Rs1057517308(TG;TG)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78093086_78093087delGT
CLNSRC
CLNACC RCV000411712.1,