{{Rsnum
|rsid=387906310
|Chromosome=15
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=HEXA
|position=72351231
|Gene_s=HEXA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=15
|CLNACC=RCV000004129.1
|CLNALLE=1
|CLNDBN=Tay-sachs disease, b1 variant
|CLNDSDB=MedGen
|CLNDSDBID=CN068770
|CLNHGVS=NC_000015.9:g.72643572C>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606869.0036
|Disease=Tay-sachs disease
|FwdALT=C
|FwdREF=G
|REF=C
|RSPOS=72643572
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=387906310
|GENEINFO=HEXA:3073
|GENE_ID=3073
|GENE_NAME=HEXA
}}