rs398123443

Orientation

plus

Stabilized

plus

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

Make rs398123443(-;-)

Make rs398123443(-;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74685375

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs398123443
dbSNP (classic)	rs398123443
ClinGen	rs398123443
ebi	rs398123443
HLI	rs398123443
Exac	rs398123443
Gnomad	rs398123443
Varsome	rs398123443
LitVar	rs398123443
Map	rs398123443
PheGenI	rs398123443
Biobank	rs398123443
1000 genomes	rs398123443
hgdp	rs398123443
ensembl	rs398123443
geneview	rs398123443
scholar	rs398123443
google	rs398123443
pharmgkb	rs398123443
gwascentral	rs398123443
openSNP	rs398123443
23andMe	rs398123443
SNPshot	rs398123443
SNPdbe	rs398123443
MSV3d	rs398123443
GWAS Ctlg	rs398123443

Max Magnitude

0

ClinVar
Risk	rs398123443(-;-)
Alt	rs398123443(-;-)
Reference	Rs398123443(G;G)
Significance	Pathogenic
Disease	not provided Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	not provided Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.73981200delG
CLNSRC	HGMD
CLNACC	RCV000079054.3, RCV000173146.1,