rs121907976

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72351194

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907976
dbSNP (classic)	rs121907976
ClinGen	rs121907976
ebi	rs121907976
HLI	rs121907976
Exac	rs121907976
Gnomad	rs121907976
Varsome	rs121907976
LitVar	rs121907976
Map	rs121907976
PheGenI	rs121907976
Biobank	rs121907976
1000 genomes	rs121907976
hgdp	rs121907976
ensembl	rs121907976
geneview	rs121907976
scholar	rs121907976
google	rs121907976
pharmgkb	rs121907976
gwascentral	rs121907976
openSNP	rs121907976
23andMe	rs121907976
SNPshot	rs121907976
SNPdbe	rs121907976
MSV3d	rs121907976
GWAS Ctlg	rs121907976

Max Magnitude

8.8

23andMe name: i5004846

OMIM	606869
Desc
Variant	0045
Related	also

ClinVar
Risk	Rs121907976(G;G)
Alt	Rs121907976(G;G)
Reference	Rs121907976(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72643535T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004137.2,