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rs1057516341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516341(C;T)
Make rs1057516341(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80118710
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516341
dbSNP (old)rs1057516341
ClinGenrs1057516341
ebirs1057516341
HLIrs1057516341
Exacrs1057516341
Gnomadrs1057516341
Varsomers1057516341
LitVarrs1057516341
Maprs1057516341
PheGenIrs1057516341
Biobankrs1057516341
1000 genomesrs1057516341
hgdprs1057516341
ensemblrs1057516341
gopubmedrs1057516341
geneviewrs1057516341
scholarrs1057516341
googlers1057516341
pharmgkbrs1057516341
gwascentralrs1057516341
openSNPrs1057516341
23andMers1057516341
23andMe allrs1057516341
SNPshotrs1057516341
SNPdbers1057516341
MSV3drs1057516341
GWAS Ctlgrs1057516341
Max Magnitude0
ClinVar
Risk rs1057516341(T;T)
Alt rs1057516341(T;T)
Reference Rs1057516341(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.78092509C>T
CLNSRC
CLNACC RCV000411086.1,