{{Rsnum
|rsid=28940868
|Gene=GAA
|Chromosome=17
|position=80112922
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|Summary=glycogen storage disease II (aka Pompe disease)
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GAA
}}[[rs28940868]], also known as Arg645Glu, is a SNP in the glucosidase alpha acid [[GAA]] gene. Mutations in this gene are potentially associated with glycogen storage disease II, which can also be known as [[Pompe disease]]. Over 300 mutations in this gene have been identified, so this SNP represents just one of them.

[[rs28940868]](A) represents the SNP (ie mutation in this case) most commonly found in infants from Taiwan diagnosed with Pompe disease.{{PMID|9554747}}

{{omim
|desc=GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
|id=606800
|rsnum=28940868
|variant=0010
}}
{{ neighbor
| rsid = 28937909
| distance = 8
}}
{{ neighbor
| rsid = 1800309
| distance = 320
}}

{{ClinVar
|rsid=28940868
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=78086721
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=GAA:2548
|GENE_NAME=GAA
|GENE_ID=2548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.78086721C>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1261; 606800.0010
|CLNSIG=5
|CLNCUI=CN068791
|CLNDBN=GLYCOGEN STORAGE DISEASE II, INFANTILE FORM; Glycogen storage disease, type II
|Disease=GLYCOGEN STORAGE DISEASE II; Glycogen storage disease
|CLNACC=RCV000004244.1; RCV000055768.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT
|CLNDSDBID=CN068791; NBK1261:C0017921:232300:365:124462004:237967002
}}

{{on chip | 23andMe v1}}