rs147324677

plus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72346234

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs147324677
dbSNP (classic)	rs147324677
ClinGen	rs147324677
ebi	rs147324677
HLI	rs147324677
Exac	rs147324677
Gnomad	rs147324677
Varsome	rs147324677
LitVar	rs147324677
Map	rs147324677
PheGenI	rs147324677
Biobank	rs147324677
1000 genomes	rs147324677
hgdp	rs147324677
ensembl	rs147324677
geneview	rs147324677
scholar	rs147324677
google	rs147324677
pharmgkb	rs147324677
gwascentral	rs147324677
openSNP	rs147324677
23andMe	rs147324677
SNPshot	rs147324677
SNPdbe	rs147324677
MSV3d	rs147324677
GWAS Ctlg	rs147324677

Max Magnitude

8.8

rs147324677, also known as c.1421+1G>C, represents a variant in the HEXA gene on chromosome 15.

The rs147324677(G) allele, as represented in dbSNP orientation, is one of three most common mutations associated (when inherited recessively) with Tay-Sachs disease among Ashkenazi Jews. Be very aware of the possibility of ambiguous C/G flip errors given the plus/forward strand designation of this SNP.

23andMe name: i4000393

ClinVar
Risk	Rs147324677(G;G)
Alt	Rs147324677(G;G)
Reference	Rs147324677(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.72638575C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004094.3, RCV000255737.1,