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rs730880022

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880022(A;A)
Make rs730880022(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80108338
GeneGAA
is asnp
is mentioned by
dbSNPrs730880022
ebirs730880022
HLIrs730880022
Exacrs730880022
Varsomers730880022
Maprs730880022
PheGenIrs730880022
hapmaprs730880022
1000 genomesrs730880022
hgdprs730880022
ensemblrs730880022
gopubmedrs730880022
geneviewrs730880022
scholarrs730880022
googlers730880022
pharmgkbrs730880022
gwascentralrs730880022
openSNPrs730880022
23andMers730880022
23andMe allrs730880022
SNP Nexus

SNPshotrs730880022
SNPdbers730880022
MSV3drs730880022
GWAS Ctlgrs730880022
Max Magnitude0
ClinVar
Risk rs730880022(A;A)
Alt rs730880022(A;A)
Reference rs730880022(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082137G>A
CLNSRC
CLNACC RCV000156939.1,