{{Rsnum
|rsid=121907982
|Gene=HEXB
|Chromosome=5
|position=74718921
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=HEXB
}}{{omim
|id=606873
|rsnum=121907982
|variant=0006
}}{{ClinVar
|rsid=121907982
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=74014746
|CHROM=5
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=HEXB:3074
|GENE_NAME=HEXB
|GENE_ID=3074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.74014746A>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606873.0006
|CLNSIG=5
|CLNCUI=C1849321
|CLNDBN=Sandhoff disease, juvenile type
|Disease=Sandhoff disease
|CLNACC=RCV000004081.1
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen
|CLNDSDBID=C1849321
|COMMON=0
}}