{{Rsnum
|rsid=121907936
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GAA
|position=80107894
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GAA
}}{{omim
|id=606800
|rsnum=121907936
|variant=0002
}}{{ClinVar
|rsid=121907936
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=78081693
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=GAA:2548
|GENE_NAME=GAA
|GENE_ID=2548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.78081693T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606800.0002
|CLNSIG=5
|CLNCUI=CN068791
|CLNDBN=GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
|Disease=GLYCOGEN STORAGE DISEASE II
|CLNACC=RCV000004236.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068791
}}