rs121907966

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

72345477

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907966
dbSNP (classic)	rs121907966
ClinGen	rs121907966
ebi	rs121907966
HLI	rs121907966
Exac	rs121907966
Gnomad	rs121907966
Varsome	rs121907966
LitVar	rs121907966
Map	rs121907966
PheGenI	rs121907966
Biobank	rs121907966
1000 genomes	rs121907966
hgdp	rs121907966
ensembl	rs121907966
geneview	rs121907966
scholar	rs121907966
google	rs121907966
pharmgkb	rs121907966
gwascentral	rs121907966
openSNP	rs121907966
23andMe	rs121907966
SNPshot	rs121907966
SNPdbe	rs121907966
MSV3d	rs121907966
GWAS Ctlg	rs121907966

Max Magnitude

8.8

23andMe name: i5004835

OMIM	606869
Desc
Variant	0028
Related	also

ClinVar
Risk	Rs121907966(T;T)
Alt	Rs121907966(T;T)
Reference	Rs121907966(C;C)
Significance	Other
Disease	Gm2-gangliosidosis Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, adult-onset Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72637818G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004121.2, RCV000169417.1,