rs398123445

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CAAAG)	3	Carrier of a Sandhoff disease mutation
(AAAGC;AAAGC)	0	common in clinvar
(CAAAG;CAAAG)	0	common in clinvar

Make rs398123445(-;-)

Reference

GRCh38 38.1/141

Chromosome

5

Position

74718359

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs398123445
dbSNP (classic)	rs398123445
ClinGen	rs398123445
ebi	rs398123445
HLI	rs398123445
Exac	rs398123445
Gnomad	rs398123445
Varsome	rs398123445
LitVar	rs398123445
Map	rs398123445
PheGenI	rs398123445
Biobank	rs398123445
1000 genomes	rs398123445
hgdp	rs398123445
ensembl	rs398123445
geneview	rs398123445
scholar	rs398123445
google	rs398123445
pharmgkb	rs398123445
gwascentral	rs398123445
openSNP	rs398123445
23andMe	rs398123445
SNPshot	rs398123445
SNPdbe	rs398123445
MSV3d	rs398123445
GWAS Ctlg	rs398123445

Max Magnitude

3

aka c.1238_1242delCAAAG

ClinVar
Risk	rs398123445(-;-)
Alt	rs398123445(-;-)
Reference	Rs398123445(AAAGC;AAAGC)
Significance	Pathogenic
Disease	not provided Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	not provided Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.74014184_74014188delCAAAG
CLNSRC	ClinVar
CLNACC	RCV000079056.3, RCV000173703.1,