rs121907971

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

72350551

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907971
dbSNP (classic)	rs121907971
ClinGen	rs121907971
ebi	rs121907971
HLI	rs121907971
Exac	rs121907971
Gnomad	rs121907971
Varsome	rs121907971
LitVar	rs121907971
Map	rs121907971
PheGenI	rs121907971
Biobank	rs121907971
1000 genomes	rs121907971
hgdp	rs121907971
ensembl	rs121907971
geneview	rs121907971
scholar	rs121907971
google	rs121907971
pharmgkb	rs121907971
gwascentral	rs121907971
openSNP	rs121907971
23andMe	rs121907971
SNPshot	rs121907971
SNPdbe	rs121907971
MSV3d	rs121907971
GWAS Ctlg	rs121907971

Max Magnitude

8.8

23andMe name: i5004842

OMIM	606869
Desc
Variant	0038
Related	also

ClinVar
Risk	Rs121907971(C;C)
Alt	Rs121907971(C;C)
Reference	Rs121907971(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease, B1 variant
Reversed	1
HGVS	NC_000015.9:g.72642892C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004130.2,