rs121907969

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72353098

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907969
dbSNP (classic)	rs121907969
ClinGen	rs121907969
ebi	rs121907969
HLI	rs121907969
Exac	rs121907969
Gnomad	rs121907969
Varsome	rs121907969
LitVar	rs121907969
Map	rs121907969
PheGenI	rs121907969
Biobank	rs121907969
1000 genomes	rs121907969
hgdp	rs121907969
ensembl	rs121907969
geneview	rs121907969
scholar	rs121907969
google	rs121907969
pharmgkb	rs121907969
gwascentral	rs121907969
openSNP	rs121907969
23andMe	rs121907969
SNPshot	rs121907969
SNPdbe	rs121907969
MSV3d	rs121907969
GWAS Ctlg	rs121907969

Max Magnitude

8.8

OMIM	606869
Desc
Variant	0032
Related	also

ClinVar
Risk	Rs121907969(G;G) rs121907969(T;T)
Alt	Rs121907969(G;G) rs121907969(T;T)
Reference	Rs121907969(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645439G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004125.2,