rs28942073

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28942073(C;T)

Make rs28942073(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74718804

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs28942073
dbSNP (classic)	rs28942073
ClinGen	rs28942073
ebi	rs28942073
HLI	rs28942073
Exac	rs28942073
Gnomad	rs28942073
Varsome	rs28942073
LitVar	rs28942073
Map	rs28942073
PheGenI	rs28942073
Biobank	rs28942073
1000 genomes	rs28942073
hgdp	rs28942073
ensembl	rs28942073
geneview	rs28942073
scholar	rs28942073
google	rs28942073
pharmgkb	rs28942073
gwascentral	rs28942073
openSNP	rs28942073
23andMe	rs28942073
SNPshot	rs28942073
SNPdbe	rs28942073
MSV3d	rs28942073
GWAS Ctlg	rs28942073

GMAF

0.001377

Max Magnitude

0

OMIM	606873
Desc	SANDHOFF DISEASE, JUVENILE TYPE
Variant	0007
Related	also

OMIM	606873
Desc
Variant	0010
Related	also

ClinVar
Risk	rs28942073(T;T)
Alt	rs28942073(T;T)
Reference	Rs28942073(C;C)
Significance	Other
Disease	Sandhoff disease Sandhoff disease not provided Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	Sandhoff disease, juvenile type Sandhoff disease, adult type not provided Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.74014629C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000004082.4, RCV000004084.3, RCV000079058.4, RCV000174009.2,