{{Rsnum
|rsid=386834236
|Chromosome=17
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=GAA
|position=80104542
|Gene_s=GAA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CAF=0.9972; 0.002755
|CHROM=17
|CLNACC=RCV000004242.1; RCV000055770.1
|CLNALLE=1
|CLNDBN=GLYCOGEN STORAGE DISEASE II, ADULT FORM; Glycogen storage disease, type II
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=CN068792; NBK1261:C0017921:232300:365:124462004:237967002
|CLNHGVS=NC_000017.10:g.78078341T>G
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1261; 606800.0006
|COMMON=1
|Disease=GLYCOGEN STORAGE DISEASE II; Glycogen storage disease
|FwdALT=G
|FwdREF=T
|GENEINFO=GAA:2548
|GENE_ID=2548
|GENE_NAME=GAA
|REF=T
|RSPOS=78078341
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000016110100
|WGT=0
|dbSNPBuildID=136
|rsid=386834236
}}