rs180869784

Orientation

plus

Stabilized

plus

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

Make rs180869784(A;A)

Make rs180869784(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

33018510

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs180869784
dbSNP (classic)	rs180869784
ClinGen	rs180869784
ebi	rs180869784
HLI	rs180869784
Exac	rs180869784
Gnomad	rs180869784
Varsome	rs180869784
LitVar	rs180869784
Map	rs180869784
PheGenI	rs180869784
Biobank	rs180869784
1000 genomes	rs180869784
hgdp	rs180869784
ensembl	rs180869784
geneview	rs180869784
scholar	rs180869784
google	rs180869784
pharmgkb	rs180869784
gwascentral	rs180869784
openSNP	rs180869784
23andMe	rs180869784
SNPshot	rs180869784
SNPdbe	rs180869784
MSV3d	rs180869784
GWAS Ctlg	rs180869784

Max Magnitude

0

ClinVar
Risk	rs180869784(A;A)
Alt	rs180869784(A;A)
Reference	Rs180869784(G;G)
Significance	Probable-Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	0
HGVS	NC_000003.11:g.33060002G>A
CLNSRC
CLNACC	RCV000190508.2,