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rs76173977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Tay-Sachs disease carrier
(T;T) 5 Tay-Sachs disease
ReferenceGRCh38 38.1/142
Chromosome15
Position72348047
GeneHEXA
is asnp
is mentioned by
dbSNPrs76173977
ClinGenrs76173977
ebirs76173977
HLIrs76173977
Exacrs76173977
Varsomers76173977
Maprs76173977
PheGenIrs76173977
hapmaprs76173977
1000 genomesrs76173977
hgdprs76173977
ensemblrs76173977
gopubmedrs76173977
geneviewrs76173977
scholarrs76173977
googlers76173977
pharmgkbrs76173977
gwascentralrs76173977
openSNPrs76173977
23andMers76173977
23andMe allrs76173977
SNP Nexus

SNPshotrs76173977
SNPdbers76173977
MSV3drs76173977
GWAS Ctlgrs76173977
Max Magnitude5

rs76173977 is a mutation in the 9th intron (IVS9) of the HEXA gene, and it has been reported as one of the more common mutations seen in non-Jewish Caucasians which can lead to Tay-Sachs disease when present in two copies or when combined with another Tay-Sachs mutation.

The best write-up of this mutation is found in OMIM.

Note that 23andMe refers to this SNP as i4000438.


ClinVar
Risk Rs76173977(T;T)
Alt Rs76173977(T;T)
Reference Rs76173977(C;C)
Significance Pathogenic
Disease Tay-Sachs disease not provided
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease not provided
Reversed 0
HGVS NC_000015.9:g.72640388C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004126.3, RCV000079047.5,