{{Rsnum
|rsid=1800309
|Gene=GAA
|Chromosome=17
|position=80113242
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.09045
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GAA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 6.2 | 93.8
| HCB | 6.7 | 42.2 | 51.1
| JPT | 13.6 | 34.1 | 52.3
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 6.7 | 42.2 | 51.1
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 13.4 | 86.6
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=ACID ALPHA-GLUCOSIDASE, ALLELE 4
|id=606800
|rsnum=1800309
|variant=0011
}}

{{ neighbor
| rsid = 28940868
| distance = 320
}}
{{ neighbor
| rsid = 28939100
| distance = 108
}}

{{ClinVar
|rsid=1800309
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=78087041
|CHROM=17
|GMAF=0.0902
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050360000000150517110101
|GENEINFO=GAA:2548
|GENE_NAME=GAA
|GENE_ID=2548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.78087041G>A
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9096; 0.09045
|CLNACC=RCV000004245.1; RCV000078165.1
|CLNDBN=Acid alpha-glucosidase, allele 4; AllHighlyPenetrant
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=594; 606800.0011
|COMMON=1
|Disease=Acid alpha-glucosidase; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
}}

{{GET Evidence
|gene=GAA
|aa_change=Glu689Lys
|aa_change_short=E689K
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1800309
|overall_frequency_n=324
|overall_frequency_d=10734
|overall_frequency=0.0301845
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.
}}

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