rs76173977

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Tay-Sachs mutation
(T;T)	8.8	Tay-Sachs disease

Reference

GRCh38 38.1/142

Chromosome

15

Position

72348047

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs76173977
dbSNP (classic)	rs76173977
ClinGen	rs76173977
ebi	rs76173977
HLI	rs76173977
Exac	rs76173977
Gnomad	rs76173977
Varsome	rs76173977
LitVar	rs76173977
Map	rs76173977
PheGenI	rs76173977
Biobank	rs76173977
1000 genomes	rs76173977
hgdp	rs76173977
ensembl	rs76173977
geneview	rs76173977
scholar	rs76173977
google	rs76173977
pharmgkb	rs76173977
gwascentral	rs76173977
openSNP	rs76173977
23andMe	rs76173977
SNPshot	rs76173977
SNPdbe	rs76173977
MSV3d	rs76173977
GWAS Ctlg	rs76173977

Max Magnitude

8.8

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.

aka c.1073+1G>A

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,