rs121907962

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

72355562

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907962
dbSNP (classic)	rs121907962
ClinGen	rs121907962
ebi	rs121907962
HLI	rs121907962
Exac	rs121907962
Gnomad	rs121907962
Varsome	rs121907962
LitVar	rs121907962
Map	rs121907962
PheGenI	rs121907962
Biobank	rs121907962
1000 genomes	rs121907962
hgdp	rs121907962
ensembl	rs121907962
geneview	rs121907962
scholar	rs121907962
google	rs121907962
pharmgkb	rs121907962
gwascentral	rs121907962
openSNP	rs121907962
23andMe	rs121907962
SNPshot	rs121907962
SNPdbe	rs121907962
MSV3d	rs121907962
GWAS Ctlg	rs121907962

Max Magnitude

8.8

OMIM	606869
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs121907962(T;T)
Alt	Rs121907962(T;T)
Reference	Rs121907962(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease not provided
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease not provided
Reversed	1
HGVS	NC_000015.9:g.72647903G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004110.3, RCV000255817.1,