{{Rsnum
|rsid=28940871
|Gene=HEXA
|Chromosome=15
|position=72346305
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|Summary=Tay-Sachs disease
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HEXA
}}This position appears to have been flipped between b36 and b37. Extra scrutiny is warranted.

[[rs28940871]], also known as Leu451Val, L451V, or C1351G, is a mutation in the [[HEXA]] gene. Some variations of this gene are associated with [[Tay-Sachs disease]].

In a population of Iraqi Jews, this SNP was found in 21 of 62 [[Tay-Sachs disease]] carriers (33.9%) and in 0 of 100 noncarriers. The authors estimated that this SNP originated sometime between 1519 BC and 635 AD, with 442 BC as the best estimate (+/- 1,000 years). The Iraqi Jewish community started around 586 BC when the Babylonian king Nebuchadnezzar deported 10,000 to 40,000 of the Jews from the kingdom of Judea to Babylon. This was probably the time of separation of the Iraqi Jews from the rest of the Jewish people. [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869&a=606869_AllelicVariant0056 OMIM] {{PMID|14648242}}

23andMe reports the risk allele as C, because it is on the minus strand.

{{omim
|desc=[[Tay-Sachs disease]]
|id=606869
|rsnum=28940871
|variant=0056
}}
{{ neighbor
| rsid = 28942071
| distance = 843
}}

{{ neighbor
| rsid = 1800431
| distance = 246
}}

{{ClinVar
|rsid=28940871
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=72638646
|CHROM=15
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=HEXA:3073
|GENE_NAME=HEXA
|GENE_ID=3073
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.72638646G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606869.0056
|CLNSIG=5
|CLNCUI=C0039373
|CLNDBN=Tay-Sachs disease
|Disease=Tay-Sachs disease
|CLNACC=RCV000004148.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1218:C0039373:272800:845:111385000
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}