{{Rsnum
|rsid = 11150843
|Status = Merged
|Merged = 1042395
|Gene = GAA
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=17
|position=80105870
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GAA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 51.3 | 42.5 | 6.2
| HCB | 32.1 | 54.0 | 13.9
| JPT | 34.8 | 40.2 | 25.0
| YRI | 18.4 | 48.3 | 33.3
| ASW | 28.1 | 52.6 | 19.3
| CHB | 32.1 | 54.0 | 13.9
| CHD | 31.2 | 45.9 | 22.9
| GIH | 43.6 | 43.6 | 12.9
| LWK | 28.2 | 49.1 | 22.7
| MEX | 25.9 | 50.0 | 24.1
| MKK | 46.8 | 39.7 | 13.5
| TSI | 60.8 | 34.3 | 4.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=11150843
|allele=A
|frequency=
|uid=1103645390988
|type=homozygous_SNP
|hugo=GAA
|ensembl gene=ENSG00000171298
|ensembl transcript=ENST00000302262
|sift=TOLERATED
|disease=Defects in GAA are the cause of glycogen storage disease II (GSD-II) (MIM:232300); also known as Pompe disease. GSD-II is an autosomal recessive disorder with a broad clinical spectrum. At one end there are patients presenting at birth with massive accumulation of glycogen in muscle, heart and liver and with a life expectancy of less than two years. Cardiorespiratory insufficiency is the major cause of death in this infantile form of GSD-II. At the opposite end of the spectrum there are patients who are free of clinical symptoms for most of their life but who develop finally a slowly progressive myopathy. Often the first manifestation is a weakness of the limb and girdle muscle, but some patients present respiratory insufficiency first. There is a third clinical phenotype, the juvenile form.
}}

{{ neighbor
| rsid = 1042393
| distance = 72
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}