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rs1057516359

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516359(-;-)
Make rs1057516359(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108556
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516359
dbSNP (old)rs1057516359
ClinGenrs1057516359
ebirs1057516359
HLIrs1057516359
Exacrs1057516359
Gnomadrs1057516359
Varsomers1057516359
Maprs1057516359
PheGenIrs1057516359
Biobankrs1057516359
1000 genomesrs1057516359
hgdprs1057516359
ensemblrs1057516359
gopubmedrs1057516359
geneviewrs1057516359
scholarrs1057516359
googlers1057516359
pharmgkbrs1057516359
gwascentralrs1057516359
openSNPrs1057516359
23andMers1057516359
23andMe allrs1057516359
SNPshotrs1057516359
SNPdbers1057516359
MSV3drs1057516359
GWAS Ctlgrs1057516359
Max Magnitude0
ClinVar
Risk rs1057516359(-;-)
Alt rs1057516359(-;-)
Reference Rs1057516359(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.78082355delC
CLNSRC
CLNACC RCV000411575.1,