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rs543300039

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs543300039(A;A)
Make rs543300039(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80107866
GeneGAA
is asnp
is mentioned by
dbSNPrs543300039
ebirs543300039
HLIrs543300039
Exacrs543300039
Varsomers543300039
Maprs543300039
PheGenIrs543300039
hapmaprs543300039
1000 genomesrs543300039
hgdprs543300039
ensemblrs543300039
gopubmedrs543300039
geneviewrs543300039
scholarrs543300039
googlers543300039
pharmgkbrs543300039
gwascentralrs543300039
openSNPrs543300039
23andMers543300039
23andMe allrs543300039
SNP Nexus

SNPshotrs543300039
SNPdbers543300039
MSV3drs543300039
GWAS Ctlgrs543300039
Max Magnitude0
ClinVar
Risk rs543300039(A;A)
Alt rs543300039(A;A)
Reference rs543300039(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.78081665G>A
CLNSRC
CLNACC RCV000169127.1,