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rs1057516290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516290(A;G)
Make rs1057516290(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108487
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516290
dbSNP (old)rs1057516290
ClinGenrs1057516290
ebirs1057516290
HLIrs1057516290
Exacrs1057516290
Gnomadrs1057516290
Varsomers1057516290
Maprs1057516290
PheGenIrs1057516290
Biobankrs1057516290
1000 genomesrs1057516290
hgdprs1057516290
ensemblrs1057516290
gopubmedrs1057516290
geneviewrs1057516290
scholarrs1057516290
googlers1057516290
pharmgkbrs1057516290
gwascentralrs1057516290
openSNPrs1057516290
23andMers1057516290
23andMe allrs1057516290
SNPshotrs1057516290
SNPdbers1057516290
MSV3drs1057516290
GWAS Ctlgrs1057516290
Max Magnitude0
ClinVar
Risk rs1057516290(G;G)
Alt rs1057516290(G;G)
Reference Rs1057516290(A;A)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082286A>G
CLNSRC
CLNACC RCV000409982.1,