rs72555364

Orientation

minus

Stabilized

minus

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

Make rs72555364(C;C)

Make rs72555364(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33068969

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555364
dbSNP (classic)	rs72555364
ClinGen	rs72555364
ebi	rs72555364
HLI	rs72555364
Exac	rs72555364
Gnomad	rs72555364
Varsome	rs72555364
LitVar	rs72555364
Map	rs72555364
PheGenI	rs72555364
Biobank	rs72555364
1000 genomes	rs72555364
hgdp	rs72555364
ensembl	rs72555364
geneview	rs72555364
scholar	rs72555364
google	rs72555364
pharmgkb	rs72555364
gwascentral	rs72555364
openSNP	rs72555364
23andMe	rs72555364
SNPshot	rs72555364
SNPdbe	rs72555364
MSV3d	rs72555364
GWAS Ctlg	rs72555364

Max Magnitude

0

OMIM	611458
Desc
Variant	0015
Related	also

ClinVar
Risk	rs72555364(C;C) rs72555364(G;G)
Alt	rs72555364(C;C) rs72555364(G;G)
Reference	Rs72555364(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	1
HGVS	NC_000003.11:g.33110461A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000986.3,