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rs28940871

From SNPedia

Tay-Sachs disease
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Tay-Sachs carrier
(G;G) 5 23andMe = Tay-Sachs disease likely, but on other platforms this may be the normal form
ReferenceGRCh38 38.1/141
Chromosome15
Position72346305
GeneHEXA
is asnp
is mentioned by
dbSNPrs28940871
ebirs28940871
HLIrs28940871
Exacrs28940871
Varsomers28940871
Maprs28940871
PheGenIrs28940871
hapmaprs28940871
1000 genomesrs28940871
hgdprs28940871
ensemblrs28940871
gopubmedrs28940871
geneviewrs28940871
scholarrs28940871
googlers28940871
pharmgkbrs28940871
gwascentralrs28940871
openSNPrs28940871
23andMers28940871
23andMe allrs28940871
SNP Nexus

SNPshotrs28940871
SNPdbers28940871
MSV3drs28940871
GWAS Ctlgrs28940871
Max Magnitude5
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. OMIM [PMID 14648242]

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

Neighborrs28942071
Distance843
Neighborrs1800431
Distance246


ClinVar
Risk rs28940871(G;G)
Alt rs28940871(G;G)
Reference rs28940871(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72638646G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004148.2,