rs121907963

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

72346680

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907963
dbSNP (classic)	rs121907963
ClinGen	rs121907963
ebi	rs121907963
HLI	rs121907963
Exac	rs121907963
Gnomad	rs121907963
Varsome	rs121907963
LitVar	rs121907963
Map	rs121907963
PheGenI	rs121907963
Biobank	rs121907963
1000 genomes	rs121907963
hgdp	rs121907963
ensembl	rs121907963
geneview	rs121907963
scholar	rs121907963
google	rs121907963
pharmgkb	rs121907963
gwascentral	rs121907963
openSNP	rs121907963
23andMe	rs121907963
SNPshot	rs121907963
SNPdbe	rs121907963
MSV3d	rs121907963
GWAS Ctlg	rs121907963

Max Magnitude

8.8

23andMe name: i5004831

OMIM	606869
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs121907963(T;T)
Alt	Rs121907963(T;T)
Reference	Rs121907963(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72639021G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004111.2,