rs72555365

Orientation

minus

Stabilized

minus

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

Make rs72555365(C;T)

Make rs72555365(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33016744

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs72555365
dbSNP (classic)	rs72555365
ClinGen	rs72555365
ebi	rs72555365
HLI	rs72555365
Exac	rs72555365
Gnomad	rs72555365
Varsome	rs72555365
LitVar	rs72555365
Map	rs72555365
PheGenI	rs72555365
Biobank	rs72555365
1000 genomes	rs72555365
hgdp	rs72555365
ensembl	rs72555365
geneview	rs72555365
scholar	rs72555365
google	rs72555365
pharmgkb	rs72555365
gwascentral	rs72555365
openSNP	rs72555365
23andMe	rs72555365
SNPshot	rs72555365
SNPdbe	rs72555365
MSV3d	rs72555365
GWAS Ctlg	rs72555365

Max Magnitude

0

OMIM	611458
Desc
Variant	0016
Related	also

ClinVar
Risk	rs72555365(T;T)
Alt	rs72555365(T;T)
Reference	Rs72555365(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	1
HGVS	NC_000003.11:g.33058236G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000119100.2,