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rs1057517267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517267(-;-)
Make rs1057517267(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80110956
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517267
dbSNP (classic)rs1057517267
ClinGenrs1057517267
ebirs1057517267
HLIrs1057517267
Exacrs1057517267
Gnomadrs1057517267
Varsomers1057517267
LitVarrs1057517267
Maprs1057517267
PheGenIrs1057517267
Biobankrs1057517267
1000 genomesrs1057517267
hgdprs1057517267
ensemblrs1057517267
geneviewrs1057517267
scholarrs1057517267
googlers1057517267
pharmgkbrs1057517267
gwascentralrs1057517267
openSNPrs1057517267
23andMers1057517267
23andMe allrs1057517267
SNPshotrs1057517267
SNPdbers1057517267
MSV3drs1057517267
GWAS Ctlgrs1057517267
Max Magnitude0
ClinVar
Risk rs1057517267(-;-)
Alt rs1057517267(-;-)
Reference Rs1057517267(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.78084755delT
CLNSRC
CLNACC RCV000411045.1,