{{Rsnum
|rsid=1800299
|Gene=GAA
|Chromosome=17
|position=80104857
|Orientation=plus
|GMAF=0.01561
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GAA
}}{{omim
|id=606800
|rsnum=1800299
|variant=0001
}}{{ClinVar
|rsid=1800299
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=78078656
|CHROM=17
|GMAF=0.0156
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050360000000150516110100
|GENEINFO=GAA:2548
|GENE_NAME=GAA
|GENE_ID=2548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.78078656G>A
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9844; 0.01561
|CLNACC=RCV000004235.1; RCV000078177.1
|CLNDBN=Acid alpha-glucosidase, allele 2; not provided
|CLNDSDB=MedGen
|CLNDSDBID=C1847465
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=6686; 606800.0001
|COMMON=1
|Disease=Acid alpha-glucosidase; not provided
}}{{GET Evidence
|gene=GAA
|aa_change=Asp91Asn
|aa_change_short=D91N
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1800299
|overall_frequency_n=255
|overall_frequency_d=10758
|overall_frequency=0.0237033
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualityscore_familial=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.    
}}