rs121907982

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a Sandhoff disease mutation

Make rs121907982(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74718921

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs121907982
dbSNP (classic)	rs121907982
ClinGen	rs121907982
ebi	rs121907982
HLI	rs121907982
Exac	rs121907982
Gnomad	rs121907982
Varsome	rs121907982
LitVar	rs121907982
Map	rs121907982
PheGenI	rs121907982
Biobank	rs121907982
1000 genomes	rs121907982
hgdp	rs121907982
ensembl	rs121907982
geneview	rs121907982
scholar	rs121907982
google	rs121907982
pharmgkb	rs121907982
gwascentral	rs121907982
openSNP	rs121907982
23andMe	rs121907982
SNPshot	rs121907982
SNPdbe	rs121907982
MSV3d	rs121907982
GWAS Ctlg	rs121907982

GMAF

0.0004591

Max Magnitude

3

aka c.1367A>C, p.Tyr456Ser or Y456S

OMIM	606873
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121907982(C;C)
Alt	rs121907982(C;C)
Reference	Rs121907982(A;A)
Significance	Pathogenic
Disease	Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	Sandhoff disease, juvenile type
Reversed	0
HGVS	NC_000005.9:g.74014746A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004081.4,