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rs398123174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123174(G;G)
Make rs398123174(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80104893
GeneGAA
is asnp
is mentioned by
dbSNPrs398123174
ebirs398123174
HLIrs398123174
Exacrs398123174
Varsomers398123174
Maprs398123174
PheGenIrs398123174
hapmaprs398123174
1000 genomesrs398123174
hgdprs398123174
ensemblrs398123174
gopubmedrs398123174
geneviewrs398123174
scholarrs398123174
googlers398123174
pharmgkbrs398123174
gwascentralrs398123174
openSNPrs398123174
23andMers398123174
23andMe allrs398123174
SNP Nexus

SNPshotrs398123174
SNPdbers398123174
MSV3drs398123174
GWAS Ctlgrs398123174
Max Magnitude0
ClinVar
Risk rs398123174(G;G)
Alt rs398123174(G;G)
Reference rs398123174(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.78078692T>G
CLNSRC HGMD
CLNACC RCV000078179.3, RCV000175529.1,