rs121907956

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72345476

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907956
dbSNP (classic)	rs121907956
ClinGen	rs121907956
ebi	rs121907956
HLI	rs121907956
Exac	rs121907956
Gnomad	rs121907956
Varsome	rs121907956
LitVar	rs121907956
Map	rs121907956
PheGenI	rs121907956
Biobank	rs121907956
1000 genomes	rs121907956
hgdp	rs121907956
ensembl	rs121907956
geneview	rs121907956
scholar	rs121907956
google	rs121907956
pharmgkb	rs121907956
gwascentral	rs121907956
openSNP	rs121907956
23andMe	rs121907956
SNPshot	rs121907956
SNPdbe	rs121907956
MSV3d	rs121907956
GWAS Ctlg	rs121907956

Max Magnitude

8.8

23andMe name: i5000086

OMIM	606869
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121907956(A;A)
Alt	Rs121907956(A;A)
Reference	Rs121907956(G;G)
Significance	Pathogenic
Disease	Gm2-gangliosidosis Inborn genetic diseases Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, juvenile Inborn genetic diseases Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72637817C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004105.2, RCV000210735.1, RCV000338961.1,