rs121907953

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

72353106

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907953
dbSNP (classic)	rs121907953
ClinGen	rs121907953
ebi	rs121907953
HLI	rs121907953
Exac	rs121907953
Gnomad	rs121907953
Varsome	rs121907953
LitVar	rs121907953
Map	rs121907953
PheGenI	rs121907953
Biobank	rs121907953
1000 genomes	rs121907953
hgdp	rs121907953
ensembl	rs121907953
geneview	rs121907953
scholar	rs121907953
google	rs121907953
pharmgkb	rs121907953
gwascentral	rs121907953
openSNP	rs121907953
23andMe	rs121907953
SNPshot	rs121907953
SNPdbe	rs121907953
MSV3d	rs121907953
GWAS Ctlg	rs121907953

Max Magnitude

8.8

23andMe name: i5004825

OMIM	606869
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121907953(T;T)
Alt	Rs121907953(T;T)
Reference	Rs121907953(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease HEXA Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease, B1 variant HEXA, Czechoslovakian allele Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645447G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004102.2, RCV000004103.2, RCV000416435.1,