rs11556045

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	0	benign polymorphism
(G;G)	0	benign polymorphism

Reference

GRCh38 38.1/141

Chromosome

5

Position

74689390

Gene

HEXB

is a	snp
is	mentioned by
dbSNP	rs11556045
dbSNP (classic)	rs11556045
ClinGen	rs11556045
ebi	rs11556045
HLI	rs11556045
Exac	rs11556045
Gnomad	rs11556045
Varsome	rs11556045
LitVar	rs11556045
Map	rs11556045
PheGenI	rs11556045
Biobank	rs11556045
1000 genomes	rs11556045
hgdp	rs11556045
ensembl	rs11556045
geneview	rs11556045
scholar	rs11556045
google	rs11556045
pharmgkb	rs11556045
gwascentral	rs11556045
openSNP	rs11556045
23andMe	rs11556045
SNPshot	rs11556045
SNPdbe	rs11556045
MSV3d	rs11556045
GWAS Ctlg	rs11556045

GMAF

0.208

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	606873
Desc	HEXB POLYMORPHISM
Variant	0008
Related	also

ClinVar
Risk	Rs11556045(G;G)
Alt	Rs11556045(G;G)
Reference	Rs11556045(A;A)
Significance	Probable-non-pathogenic
Disease	HEXB POLYMORPHISM not specified Sandhoff disease
Variation	info
Gene	HEXB
CLNDBN	HEXB POLYMORPHISM not specified Sandhoff disease
Reversed	0
HGVS	NC_000005.9:g.73985215A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004078.2, RCV000079063.5, RCV000336190.1,

[PMID 18704161] Genetic variation in an individual human exome.