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rs1057516363

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516363(G;T)
Make rs1057516363(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117020
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516363
dbSNP (old)rs1057516363
ClinGenrs1057516363
ebirs1057516363
HLIrs1057516363
Exacrs1057516363
Gnomadrs1057516363
Varsomers1057516363
Maprs1057516363
PheGenIrs1057516363
Biobankrs1057516363
1000 genomesrs1057516363
hgdprs1057516363
ensemblrs1057516363
gopubmedrs1057516363
geneviewrs1057516363
scholarrs1057516363
googlers1057516363
pharmgkbrs1057516363
gwascentralrs1057516363
openSNPrs1057516363
23andMers1057516363
23andMe allrs1057516363
SNPshotrs1057516363
SNPdbers1057516363
MSV3drs1057516363
GWAS Ctlgrs1057516363
Max Magnitude0
ClinVar
Risk rs1057516363(T;T)
Alt rs1057516363(T;T)
Reference Rs1057516363(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78090819G>T
CLNSRC
CLNACC RCV000411214.1,