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rs1057516785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516785(-;-)
Make rs1057516785(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108512
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516785
dbSNP (old)rs1057516785
ClinGenrs1057516785
ebirs1057516785
HLIrs1057516785
Exacrs1057516785
Gnomadrs1057516785
Varsomers1057516785
Maprs1057516785
PheGenIrs1057516785
Biobankrs1057516785
1000 genomesrs1057516785
hgdprs1057516785
ensemblrs1057516785
gopubmedrs1057516785
geneviewrs1057516785
scholarrs1057516785
googlers1057516785
pharmgkbrs1057516785
gwascentralrs1057516785
openSNPrs1057516785
23andMers1057516785
23andMe allrs1057516785
SNPshotrs1057516785
SNPdbers1057516785
MSV3drs1057516785
GWAS Ctlgrs1057516785
Max Magnitude0
ClinVar
Risk rs1057516785(-;-)
Alt rs1057516785(-;-)
Reference Rs1057516785(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.78082311delT
CLNSRC
CLNACC RCV000410443.1,