rs398123446

Orientation

plus

Stabilized

plus

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

Make rs398123446(A;G)

Make rs398123446(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74718795

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs398123446
dbSNP (classic)	rs398123446
ClinGen	rs398123446
ebi	rs398123446
HLI	rs398123446
Exac	rs398123446
Gnomad	rs398123446
Varsome	rs398123446
LitVar	rs398123446
Map	rs398123446
PheGenI	rs398123446
Biobank	rs398123446
1000 genomes	rs398123446
hgdp	rs398123446
ensembl	rs398123446
geneview	rs398123446
scholar	rs398123446
google	rs398123446
pharmgkb	rs398123446
gwascentral	rs398123446
openSNP	rs398123446
23andMe	rs398123446
SNPshot	rs398123446
SNPdbe	rs398123446
MSV3d	rs398123446
GWAS Ctlg	rs398123446

Max Magnitude

0

ClinVar
Risk	rs398123446(G;G)
Alt	rs398123446(G;G)
Reference	Rs398123446(A;A)
Significance	Pathogenic
Disease	not provided Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	not provided Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.74014620A>G
CLNSRC	ClinVar
CLNACC	RCV000079057.3, RCV000174010.1,