rs727503959

Orientation

plus

Stabilized

plus

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

Make rs727503959(C;C)

Make rs727503959(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

74705325

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs727503959
dbSNP (classic)	rs727503959
ClinGen	rs727503959
ebi	rs727503959
HLI	rs727503959
Exac	rs727503959
Gnomad	rs727503959
Varsome	rs727503959
LitVar	rs727503959
Map	rs727503959
PheGenI	rs727503959
Biobank	rs727503959
1000 genomes	rs727503959
hgdp	rs727503959
ensembl	rs727503959
geneview	rs727503959
scholar	rs727503959
google	rs727503959
pharmgkb	rs727503959
gwascentral	rs727503959
openSNP	rs727503959
23andMe	rs727503959
SNPshot	rs727503959
SNPdbe	rs727503959
MSV3d	rs727503959
GWAS Ctlg	rs727503959

Max Magnitude

0

ClinVar
Risk	rs727503959(C;C)
Alt	rs727503959(C;C)
Reference	Rs727503959(G;G)
Significance	Probable-Pathogenic
Disease	not provided Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	not provided Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.74001150G>C
CLNSRC
CLNACC	RCV000153358.2, RCV000179319.1,