rs121907973

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72351215

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907973
dbSNP (classic)	rs121907973
ClinGen	rs121907973
ebi	rs121907973
HLI	rs121907973
Exac	rs121907973
Gnomad	rs121907973
Varsome	rs121907973
LitVar	rs121907973
Map	rs121907973
PheGenI	rs121907973
Biobank	rs121907973
1000 genomes	rs121907973
hgdp	rs121907973
ensembl	rs121907973
geneview	rs121907973
scholar	rs121907973
google	rs121907973
pharmgkb	rs121907973
gwascentral	rs121907973
openSNP	rs121907973
23andMe	rs121907973
SNPshot	rs121907973
SNPdbe	rs121907973
MSV3d	rs121907973
GWAS Ctlg	rs121907973

Max Magnitude

8.8

23andMe name: i5004843

OMIM	606869
Desc
Variant	0041
Related	also

ClinVar
Risk	Rs121907973(C;C)
Alt	Rs121907973(C;C)
Reference	Rs121907973(A;A)
Significance	Pathogenic
Disease	Gm2-gangliosidosis
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, late onset
Reversed	1
HGVS	NC_000015.9:g.72643556T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004133.2,