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rs398123169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123169(A;A)
Make rs398123169(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80110754
GeneGAA
is asnp
is mentioned by
dbSNPrs398123169
ebirs398123169
HLIrs398123169
Exacrs398123169
Varsomers398123169
Maprs398123169
PheGenIrs398123169
hapmaprs398123169
1000 genomesrs398123169
hgdprs398123169
ensemblrs398123169
gopubmedrs398123169
geneviewrs398123169
scholarrs398123169
googlers398123169
pharmgkbrs398123169
gwascentralrs398123169
openSNPrs398123169
23andMers398123169
23andMe allrs398123169
SNP Nexus

SNPshotrs398123169
SNPdbers398123169
MSV3drs398123169
GWAS Ctlgrs398123169
Max Magnitude0
ClinVar
Risk rs398123169(A;A)
Alt rs398123169(A;A)
Reference rs398123169(G;G)
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.78084553G>A
CLNSRC HGMD
CLNACC RCV000078159.3, RCV000173646.1,