{{Rsnum
|rsid=147324677
|Chromosome=15
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=HEXA
|position=72346234
|Gene_s=HEXA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=15
|CLNACC=RCV000004094.1
|CLNALLE=1
|CLNDBN=Tay-Sachs disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1218:C0039373:272800:845:111385000
|CLNHGVS=NC_000015.9:g.72638575C>G
|CLNSIG=5
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000508973; 606869.0002
|Disease=Tay-Sachs disease
|FwdALT=G
|FwdREF=C
|GENEINFO=HEXA:3073
|GENE_ID=3073
|GENE_NAME=HEXA
|REF=C
|RSPOS=72638575
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;VLD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000040002110100
|WGT=0
|dbSNPBuildID=134
|rsid=147324677
}}