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rs398123171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123171(-;-)
Make rs398123171(-;AGCCG)
Make rs398123171(AGCCG;AGCCG)
ReferenceGRCh38 38.1/141
Chromosome17
Position80113247
GeneGAA
is asnp
is mentioned by
dbSNPrs398123171
ebirs398123171
HLIrs398123171
Exacrs398123171
Varsomers398123171
Maprs398123171
PheGenIrs398123171
hapmaprs398123171
1000 genomesrs398123171
hgdprs398123171
ensemblrs398123171
gopubmedrs398123171
geneviewrs398123171
scholarrs398123171
googlers398123171
pharmgkbrs398123171
gwascentralrs398123171
openSNPrs398123171
23andMers398123171
23andMe allrs398123171
SNP Nexus

SNPshotrs398123171
SNPdbers398123171
MSV3drs398123171
GWAS Ctlgrs398123171
Max Magnitude0
ClinVar
Risk rs398123171(CGAGC;CGAGC)
Alt rs398123171(CGAGC;CGAGC)
Reference rs398123171(;)
Significance Pathogenic
Disease not provided Glycogen storage disease
Variation info
Gene GAA
CLNDBN not provided Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78087042_78087046dupAGCCG
CLNSRC HGMD
CLNACC RCV000078166.3, RCV000174830.1,