rs121907977

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72349163

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907977
dbSNP (classic)	rs121907977
ClinGen	rs121907977
ebi	rs121907977
HLI	rs121907977
Exac	rs121907977
Gnomad	rs121907977
Varsome	rs121907977
LitVar	rs121907977
Map	rs121907977
PheGenI	rs121907977
Biobank	rs121907977
1000 genomes	rs121907977
hgdp	rs121907977
ensembl	rs121907977
geneview	rs121907977
scholar	rs121907977
google	rs121907977
pharmgkb	rs121907977
gwascentral	rs121907977
openSNP	rs121907977
23andMe	rs121907977
SNPshot	rs121907977
SNPdbe	rs121907977
MSV3d	rs121907977
GWAS Ctlg	rs121907977

Max Magnitude

8.8

23andMe name: i5004847

OMIM	606869
Desc
Variant	0047
Related	also

ClinVar
Risk	Rs121907977(G;G)
Alt	Rs121907977(G;G)
Reference	Rs121907977(T;T)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72641504A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004139.2,