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rs398123172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123172(G;T)
Make rs398123172(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80113282
GeneGAA
is asnp
is mentioned by
dbSNPrs398123172
ebirs398123172
HLIrs398123172
Exacrs398123172
Varsomers398123172
Maprs398123172
PheGenIrs398123172
hapmaprs398123172
1000 genomesrs398123172
hgdprs398123172
ensemblrs398123172
gopubmedrs398123172
geneviewrs398123172
scholarrs398123172
googlers398123172
pharmgkbrs398123172
gwascentralrs398123172
openSNPrs398123172
23andMers398123172
23andMe allrs398123172
SNP Nexus

SNPshotrs398123172
SNPdbers398123172
MSV3drs398123172
GWAS Ctlgrs398123172
Max Magnitude0
ClinVar
Risk rs398123172(A,T;A,T)
Alt rs398123172(A,T;A,T)
Reference rs398123172(G;G)
Significance Probable-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.78087081G>T
CLNSRC HGMD
CLNACC RCV000078167.3, RCV000174831.1,