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rs1057516826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516826(-;ATACG)
Make rs1057516826(ATACG;ATACG)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80112651
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516826
dbSNP (old)rs1057516826
ClinGenrs1057516826
ebirs1057516826
HLIrs1057516826
Exacrs1057516826
Gnomadrs1057516826
Varsomers1057516826
Maprs1057516826
PheGenIrs1057516826
Biobankrs1057516826
1000 genomesrs1057516826
hgdprs1057516826
ensemblrs1057516826
gopubmedrs1057516826
geneviewrs1057516826
scholarrs1057516826
googlers1057516826
pharmgkbrs1057516826
gwascentralrs1057516826
openSNPrs1057516826
23andMers1057516826
23andMe allrs1057516826
SNPshotrs1057516826
SNPdbers1057516826
MSV3drs1057516826
GWAS Ctlgrs1057516826
Max Magnitude0
ClinVar
Risk rs1057516826(CGATA;CGATA)
Alt rs1057516826(CGATA;CGATA)
Reference Rs1057516826(-;-)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086446_78086450dupATACG
CLNSRC
CLNACC RCV000409565.1,