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rs398123173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123173(-;-)
Make rs398123173(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position80118255
GeneGAA
is asnp
is mentioned by
dbSNPrs398123173
ebirs398123173
HLIrs398123173
Exacrs398123173
Varsomers398123173
Maprs398123173
PheGenIrs398123173
hapmaprs398123173
1000 genomesrs398123173
hgdprs398123173
ensemblrs398123173
gopubmedrs398123173
geneviewrs398123173
scholarrs398123173
googlers398123173
pharmgkbrs398123173
gwascentralrs398123173
openSNPrs398123173
23andMers398123173
23andMe allrs398123173
SNP Nexus

SNPshotrs398123173
SNPdbers398123173
MSV3drs398123173
GWAS Ctlgrs398123173
Max Magnitude0
ClinVar
Risk rs398123173(;)
Alt rs398123173(;)
Reference rs398123173(C;C)
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.78092054delC
CLNSRC HGMD
CLNACC RCV000078175.3, RCV000175264.1,