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rs730880372

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880372(-;-)
Make rs730880372(-;A)
Make rs730880372(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80113255
GeneGAA
is asnp
is mentioned by
dbSNPrs730880372
ebirs730880372
HLIrs730880372
Exacrs730880372
Varsomers730880372
Maprs730880372
PheGenIrs730880372
hapmaprs730880372
1000 genomesrs730880372
hgdprs730880372
ensemblrs730880372
gopubmedrs730880372
geneviewrs730880372
scholarrs730880372
googlers730880372
pharmgkbrs730880372
gwascentralrs730880372
openSNPrs730880372
23andMers730880372
23andMe allrs730880372
SNP Nexus

SNPshotrs730880372
SNPdbers730880372
MSV3drs730880372
GWAS Ctlgrs730880372
Max Magnitude0
ClinVar
Risk rs730880372(A;A)
Alt rs730880372(A;A)
Reference rs730880372(;)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78087054dupA
CLNSRC
CLNACC RCV000156940.1,