rs72555363

Orientation

minus

Stabilized

minus

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

Make rs72555363(G;T)

Make rs72555363(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33014263

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555363
dbSNP (classic)	rs72555363
ClinGen	rs72555363
ebi	rs72555363
HLI	rs72555363
Exac	rs72555363
Gnomad	rs72555363
Varsome	rs72555363
LitVar	rs72555363
Map	rs72555363
PheGenI	rs72555363
Biobank	rs72555363
1000 genomes	rs72555363
hgdp	rs72555363
ensembl	rs72555363
geneview	rs72555363
scholar	rs72555363
google	rs72555363
pharmgkb	rs72555363
gwascentral	rs72555363
openSNP	rs72555363
23andMe	rs72555363
SNPshot	rs72555363
SNPdbe	rs72555363
MSV3d	rs72555363
GWAS Ctlg	rs72555363

Max Magnitude

0

OMIM	611458
Desc
Variant	0011
Related	also

ClinVar
Risk	rs72555363(T;T)
Alt	rs72555363(T;T)
Reference	Rs72555363(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	1
HGVS	NC_000003.11:g.33055755C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000982.5,

[PMID 1928092] Human beta-galactosidase gene mutations in morquio B disease.