{{Rsnum
|rsid=11556045
|Gene=HEXB
|Chromosome=5
|position=74689390
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.208
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HEXB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 55.4 | 41.1 | 3.6
| HCB | 62.5 | 34.6 | 2.9
| JPT | 65.5 | 31.9 | 2.7
| YRI | 58.9 | 33.6 | 7.5
| ASW | 47.4 | 47.4 | 5.3
| CHB | 62.5 | 34.6 | 2.9
| CHD | 76.9 | 21.3 | 1.9
| GIH | 57.0 | 35.0 | 8.0
| LWK | 43.5 | 46.3 | 10.2
| MEX | 61.4 | 35.1 | 3.5
| MKK | 59.7 | 31.2 | 9.1
| TSI | 73.5 | 23.5 | 2.9
| HapMapRevision=28
}}

{{omim
|desc=HEXB POLYMORPHISM
|id=606873
|rsnum=11556045
|variant=0008
}}

{{Venter SNP
|rsid=11556045
|allele=G
|frequency=0.212
|uid=1103654134455
|type=heterozygous_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=11556045
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=73985215
|CHROM=5
|GMAF=0.2074
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x05036800000017051f110100
|GENEINFO=HEXB:3074
|GENE_NAME=HEXB
|GENE_ID=3074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.73985215A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.792; 0.208
|CLNACC=RCV000004078.1; RCV000079063.1
|CLNDBN=HEXB POLYMORPHISM; AllHighlyPenetrant
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=1030; 606873.0008
|COMMON=1
|Disease=HEXB POLYMORPHISM; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
}}

{{PMID Auto
|PMID=18704161
|Title=Genetic variation in an individual human exome.
|OA=1
}}

{{GET Evidence
|gene=HEXB
|aa_change=Lys121Arg
|aa_change_short=K121R
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11556045
|overall_frequency_n=2138
|overall_frequency_d=10758
|overall_frequency=0.198736
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=-3
|autoscore=3
|webscore=N
|n_web_uneval=4
}}

{{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}}