rs72555366

Orientation

minus

Stabilized

minus

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

Make rs72555366(C;T)

Make rs72555366(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33058200

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555366
dbSNP (classic)	rs72555366
ClinGen	rs72555366
ebi	rs72555366
HLI	rs72555366
Exac	rs72555366
Gnomad	rs72555366
Varsome	rs72555366
LitVar	rs72555366
Map	rs72555366
PheGenI	rs72555366
Biobank	rs72555366
1000 genomes	rs72555366
hgdp	rs72555366
ensembl	rs72555366
geneview	rs72555366
scholar	rs72555366
google	rs72555366
pharmgkb	rs72555366
gwascentral	rs72555366
openSNP	rs72555366
23andMe	rs72555366
SNPshot	rs72555366
SNPdbe	rs72555366
MSV3d	rs72555366
GWAS Ctlg	rs72555366

GMAF

0.0004591

Max Magnitude

0

OMIM	611458
Desc
Variant	0017
Related	also

ClinVar
Risk	rs72555366(T;T)
Alt	rs72555366(T;T)
Reference	Rs72555366(C;C)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Reversed	1
HGVS	NC_000003.11:g.33099692G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000000988.2, RCV000078719.3, RCV000179306.1, RCV000179307.1, RCV000179308.1,

[PMID 8213816] Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.