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rs147804176

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147804176(G;T)
Make rs147804176(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80110726
GeneGAA
is asnp
is mentioned by
dbSNPrs147804176
ebirs147804176
HLIrs147804176
Exacrs147804176
Varsomers147804176
Maprs147804176
PheGenIrs147804176
hapmaprs147804176
1000 genomesrs147804176
hgdprs147804176
ensemblrs147804176
gopubmedrs147804176
geneviewrs147804176
scholarrs147804176
googlers147804176
pharmgkbrs147804176
gwascentralrs147804176
openSNPrs147804176
23andMers147804176
23andMe allrs147804176
SNP Nexus

SNPshotrs147804176
SNPdbers147804176
MSV3drs147804176
GWAS Ctlgrs147804176
Max Magnitude0
ClinVar
Risk rs147804176(C,T;C,T)
Alt rs147804176(C,T;C,T)
Reference rs147804176(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78084525G>C
CLNSRC
CLNACC RCV000169615.1,