rs820878

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(T;T)	0	common in clinvar

Make rs820878(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74685445

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs820878
dbSNP (classic)	rs820878
ClinGen	rs820878
ebi	rs820878
HLI	rs820878
Exac	rs820878
Gnomad	rs820878
Varsome	rs820878
LitVar	rs820878
Map	rs820878
PheGenI	rs820878
Biobank	rs820878
1000 genomes	rs820878
hgdp	rs820878
ensembl	rs820878
geneview	rs820878
scholar	rs820878
google	rs820878
pharmgkb	rs820878
gwascentral	rs820878
openSNP	rs820878
23andMe	rs820878
SNPshot	rs820878
SNPdbe	rs820878
MSV3d	rs820878
GWAS Ctlg	rs820878

GMAF

0.02066

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	606873
Desc	SANDHOFF DISEASE, INFANTILE TYPE
Variant	0012
Related	also

ClinVar
Risk	Rs820878(C;C)
Alt	Rs820878(C;C)
Reference	Rs820878(T;T)
Significance	Pathogenic
Disease	Sandhoff disease not specified
Variation	info
Gene	HEXB
CLNDBN	Sandhoff disease, infantile type not specified
Reversed	0
HGVS	NC_000005.9:g.73981270T\x3d; NC_000005.9:g.73981270T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004086.3, RCV000153357.2,