rs189115557

Orientation

plus

Stabilized

plus

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

Make rs189115557(C;T)

Make rs189115557(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

33058220

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs189115557
dbSNP (classic)	rs189115557
ClinGen	rs189115557
ebi	rs189115557
HLI	rs189115557
Exac	rs189115557
Gnomad	rs189115557
Varsome	rs189115557
LitVar	rs189115557
Map	rs189115557
PheGenI	rs189115557
Biobank	rs189115557
1000 genomes	rs189115557
hgdp	rs189115557
ensembl	rs189115557
geneview	rs189115557
scholar	rs189115557
google	rs189115557
pharmgkb	rs189115557
gwascentral	rs189115557
openSNP	rs189115557
23andMe	rs189115557
SNPshot	rs189115557
SNPdbe	rs189115557
MSV3d	rs189115557
GWAS Ctlg	rs189115557

Max Magnitude

0

ClinVar
Risk	rs189115557(T;T)
Alt	rs189115557(T;T)
Reference	Rs189115557(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis not provided GLB1-Related Disorders
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis not provided GLB1-Related Disorders
Reversed	0
HGVS	NC_000003.11:g.33099712C>T
CLNSRC
CLNACC	RCV000179302.1, RCV000179303.1, RCV000179304.1, RCV000179305.1, RCV000255006.1, RCV000309607.1,