{{Rsnum
|rsid=820878
|Gene=HEXB
|Chromosome=5
|position=74685445
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.02066
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 89.8 | 9.3 | 0.9
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 96.4 | 3.6 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 94.0 | 6.0 | 0.0
| LWK | 96.3 | 3.7 | 0.0
| MEX | 89.3 | 10.7 | 0.0
| MKK | 99.3 | 0.7 | 0.0
| TSI | 87.1 | 12.9 | 0.0
| HapMapRevision=28
}}

{{omim
|desc=SANDHOFF DISEASE, INFANTILE TYPE
|id=606873
|rsnum=820878
|variant=0012
}}

{{Venter SNP
|rsid=820878
|allele=C
|frequency=0.974
|uid=1103654134457
|type=homozygous_SNP
|hugo=HEXB
|ensembl gene=ENSG00000049860
|ensembl transcript=ENST00000261416
|sift=TOLERATED
|disease=Defects in HEXB are the cause of Sandhoff disease (SD) (MIM:268800); also known as GM2-gangliosidosis type II. SD is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons. It is clinically indistinguishable from Tay-Sachs disease.
}}

{{ClinVar
|rsid=820878
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=73981270
|CHROM=5
|GMAF=0.0206
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05016000000015051f110100
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000005.9:g.73981270T\x3d
|CLNORIGIN=1
|CLNSRCID=
606873.0012
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000004086.1
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.02066; 0.9793
|CLNDBN=Sandhoff disease, infantile type
|CLNDSDB=MedGen
|CLNDSDBID=C1849322
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=Sandhoff disease
|GENEINFO=HEXB:3074
|GENE_ID=3074
|GENE_NAME=HEXB
}}

{{GET Evidence
|gene=HEXB
|aa_change=Leu62Ser
|aa_change_short=L62S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs820878
|overall_frequency_n=10396
|overall_frequency_d=10736
|overall_frequency=0.968331
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}