rs121907975

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72355591

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907975
dbSNP (classic)	rs121907975
ClinGen	rs121907975
ebi	rs121907975
HLI	rs121907975
Exac	rs121907975
Gnomad	rs121907975
Varsome	rs121907975
LitVar	rs121907975
Map	rs121907975
PheGenI	rs121907975
Biobank	rs121907975
1000 genomes	rs121907975
hgdp	rs121907975
ensembl	rs121907975
geneview	rs121907975
scholar	rs121907975
google	rs121907975
pharmgkb	rs121907975
gwascentral	rs121907975
openSNP	rs121907975
23andMe	rs121907975
SNPshot	rs121907975
SNPdbe	rs121907975
MSV3d	rs121907975
GWAS Ctlg	rs121907975

Max Magnitude

8.8

23andMe name: i5004845

OMIM	606869
Desc
Variant	0044
Related	also

ClinVar
Risk	Rs121907975(G;G)
Alt	Rs121907975(G;G)
Reference	Rs121907975(T;T)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72647932A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004136.2,