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rs1057516546

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516546(-;C)
Make rs1057516546(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108605
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516546
dbSNP (old)rs1057516546
ClinGenrs1057516546
ebirs1057516546
HLIrs1057516546
Exacrs1057516546
Gnomadrs1057516546
Varsomers1057516546
Maprs1057516546
PheGenIrs1057516546
Biobankrs1057516546
1000 genomesrs1057516546
hgdprs1057516546
ensemblrs1057516546
gopubmedrs1057516546
geneviewrs1057516546
scholarrs1057516546
googlers1057516546
pharmgkbrs1057516546
gwascentralrs1057516546
openSNPrs1057516546
23andMers1057516546
23andMe allrs1057516546
SNPshotrs1057516546
SNPdbers1057516546
MSV3drs1057516546
GWAS Ctlgrs1057516546
Max Magnitude0
ClinVar
Risk rs1057516546(C;C)
Alt rs1057516546(C;C)
Reference Rs1057516546(-;-)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082404dupC
CLNSRC
CLNACC RCV000411138.1,