{{Rsnum
|rsid=397515343
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GBE1
|position=81761374
|Gene_s=GBE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000002918.1; RCV000056092.1
|CLNALLE=1
|CLNDBN=GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR; Glycogen storage disease, type IV
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN068582; NBK115333:NBK5300:C0017923:232500:367:11179002
|CLNHGVS=NC_000003.11:g.81810525C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK5300; 607839.0009
|Disease=GLYCOGEN STORAGE DISEASE IV; Glycogen storage disease
|FwdALT=A
|FwdREF=G
|GENEINFO=GBE1:2632
|GENE_ID=2632
|GENE_NAME=GBE1
|REF=C
|RSPOS=81810525
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515343
}}