rs121907981

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72345550

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907981
dbSNP (classic)	rs121907981
ClinGen	rs121907981
ebi	rs121907981
HLI	rs121907981
Exac	rs121907981
Gnomad	rs121907981
Varsome	rs121907981
LitVar	rs121907981
Map	rs121907981
PheGenI	rs121907981
Biobank	rs121907981
1000 genomes	rs121907981
hgdp	rs121907981
ensembl	rs121907981
geneview	rs121907981
scholar	rs121907981
google	rs121907981
pharmgkb	rs121907981
gwascentral	rs121907981
openSNP	rs121907981
23andMe	rs121907981
SNPshot	rs121907981
SNPdbe	rs121907981
MSV3d	rs121907981
GWAS Ctlg	rs121907981

Max Magnitude

8.8

OMIM	606869
Desc
Variant	0055
Related	also

ClinVar
Risk	Rs121907981(C;C)
Alt	Rs121907981(C;C)
Reference	Rs121907981(G;G)
Significance	Pathogenic
Disease	Gm2-gangliosidosis
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, subacute
Reversed	1
HGVS	NC_000015.9:g.72637891C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004147.2,