rs121907961

Orientation

minus

Stabilized

minus

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 (predicted)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72351176

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907961
dbSNP (classic)	rs121907961
ClinGen	rs121907961
ebi	rs121907961
HLI	rs121907961
Exac	rs121907961
Gnomad	rs121907961
Varsome	rs121907961
LitVar	rs121907961
Map	rs121907961
PheGenI	rs121907961
Biobank	rs121907961
1000 genomes	rs121907961
hgdp	rs121907961
ensembl	rs121907961
geneview	rs121907961
scholar	rs121907961
google	rs121907961
pharmgkb	rs121907961
gwascentral	rs121907961
openSNP	rs121907961
23andMe	rs121907961
SNPshot	rs121907961
SNPdbe	rs121907961
MSV3d	rs121907961
GWAS Ctlg	rs121907961

Max Magnitude

8.8

23andMe name: i5000089

OMIM	606869
Desc
Variant	0017
Related	also

ClinVar
Risk	Rs121907961(T;T)
Alt	Rs121907961(T;T)
Reference	Rs121907961(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72643517G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004114.2,