{{Rsnum
|rsid=121907943
|Gene=GAA
|Chromosome=17
|position=80118271
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=GAA
}}{{omim
|id=606800
|rsnum=121907943
|variant=0015
}}{{ClinVar
|rsid=121907943
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=78092070
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000040016110100
|GENEINFO=GAA:2548
|GENE_NAME=GAA
|GENE_ID=2548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.78092070C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1261; 606800.0015
|CLNSIG=5
|CLNCUI=C0017921
|CLNDBN=Glycogen storage disease, type II
|Disease=Glycogen storage disease
|CLNACC=RCV000004249.2
|Tags=PM;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1261:C0017921:232300:365:124462004:237967002
|COMMON=0
}}