rs72555369

Orientation

minus

Stabilized

minus

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

Make rs72555369(A;C)

Make rs72555369(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33021576

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs72555369
dbSNP (classic)	rs72555369
ClinGen	rs72555369
ebi	rs72555369
HLI	rs72555369
Exac	rs72555369
Gnomad	rs72555369
Varsome	rs72555369
LitVar	rs72555369
Map	rs72555369
PheGenI	rs72555369
Biobank	rs72555369
1000 genomes	rs72555369
hgdp	rs72555369
ensembl	rs72555369
geneview	rs72555369
scholar	rs72555369
google	rs72555369
pharmgkb	rs72555369
gwascentral	rs72555369
openSNP	rs72555369
23andMe	rs72555369
SNPshot	rs72555369
SNPdbe	rs72555369
MSV3d	rs72555369
GWAS Ctlg	rs72555369

Max Magnitude

0

OMIM	611458
Desc
Variant	0021
Related	also

ClinVar
Risk	rs72555369(C;C)
Alt	rs72555369(C;C)
Reference	Rs72555369(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	1
HGVS	NC_000003.11:g.33063068T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000992.3,