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rs398123170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123170(G;G)
Make rs398123170(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80112999
GeneGAA
is asnp
is mentioned by
dbSNPrs398123170
ebirs398123170
HLIrs398123170
Exacrs398123170
Varsomers398123170
Maprs398123170
PheGenIrs398123170
hapmaprs398123170
1000 genomesrs398123170
hgdprs398123170
ensemblrs398123170
gopubmedrs398123170
geneviewrs398123170
scholarrs398123170
googlers398123170
pharmgkbrs398123170
gwascentralrs398123170
openSNPrs398123170
23andMers398123170
23andMe allrs398123170
SNP Nexus

SNPshotrs398123170
SNPdbers398123170
MSV3drs398123170
GWAS Ctlgrs398123170
Max Magnitude0
ClinVar
Risk rs398123170(C,G;C,G)
Alt rs398123170(C,G;C,G)
Reference rs398123170(T;T)
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.78086798T>G
CLNSRC HGMD
CLNACC RCV000078163.3, RCV000174660.1,