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rs28942071

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier for a Tay-Sachs mutation
(T;T) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345462
GeneHEXA
is asnp
is mentioned by
dbSNPrs28942071
dbSNP (old)rs28942071
ClinGenrs28942071
ebirs28942071
HLIrs28942071
Exacrs28942071
Gnomadrs28942071
Varsomers28942071
Maprs28942071
PheGenIrs28942071
Biobankrs28942071
1000 genomesrs28942071
hgdprs28942071
ensemblrs28942071
gopubmedrs28942071
geneviewrs28942071
scholarrs28942071
googlers28942071
pharmgkbrs28942071
gwascentralrs28942071
openSNPrs28942071
23andMers28942071
23andMe allrs28942071
SNP Nexus

SNPshotrs28942071
SNPdbers28942071
MSV3drs28942071
GWAS Ctlgrs28942071
Max Magnitude8.8

rs28942071, also known as c.1510C>T, p.Arg504Cys and R504C, represents a variant in the HEXA gene on chromosome 15.

The rs28942071(T) allele represents a mutation that, when inherited recessively, is considered likely to lead to Tay-Sachs disease. This allele may be among the most common Tay-Sachs mutations in non-Ashkenazi European populations.[PMID 24498621OA-icon.png]

23andMe name: i5000085

OMIM606869
DescGM2-GANGLIOSIDOSIS, CHRONIC
Variant0015
Relatedalso
Neighborrs28940871
Distance843
ClinVar
Risk Rs28942071(T;T)
Alt Rs28942071(T;T)
Reference Rs28942071(C;C)
Significance Pathogenic
Disease Gm2-gangliosidosis Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, chronic Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637803G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004112.2, RCV000169084.1,