Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516503

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516503(-;-)
Make rs1057516503(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80104867
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516503
dbSNP (old)rs1057516503
ClinGenrs1057516503
ebirs1057516503
HLIrs1057516503
Exacrs1057516503
Gnomadrs1057516503
Varsomers1057516503
Maprs1057516503
PheGenIrs1057516503
Biobankrs1057516503
1000 genomesrs1057516503
hgdprs1057516503
ensemblrs1057516503
gopubmedrs1057516503
geneviewrs1057516503
scholarrs1057516503
googlers1057516503
pharmgkbrs1057516503
gwascentralrs1057516503
openSNPrs1057516503
23andMers1057516503
23andMe allrs1057516503
SNPshotrs1057516503
SNPdbers1057516503
MSV3drs1057516503
GWAS Ctlgrs1057516503
Max Magnitude0
ClinVar
Risk rs1057516503(-;-)
Alt rs1057516503(-;-)
Reference Rs1057516503(CT;CT)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78078666_78078667delCT
CLNSRC
CLNACC RCV000411737.1,