rs398123353

Orientation

minus

Stabilized

minus

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

Make rs398123353(A;A)

Make rs398123353(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33068291

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs398123353
dbSNP (classic)	rs398123353
ClinGen	rs398123353
ebi	rs398123353
HLI	rs398123353
Exac	rs398123353
Gnomad	rs398123353
Varsome	rs398123353
LitVar	rs398123353
Map	rs398123353
PheGenI	rs398123353
Biobank	rs398123353
1000 genomes	rs398123353
hgdp	rs398123353
ensembl	rs398123353
geneview	rs398123353
scholar	rs398123353
google	rs398123353
pharmgkb	rs398123353
gwascentral	rs398123353
openSNP	rs398123353
23andMe	rs398123353
SNPshot	rs398123353
SNPdbe	rs398123353
MSV3d	rs398123353
GWAS Ctlg	rs398123353

Max Magnitude

0

ClinVar
Risk	rs398123353(A;A)
Alt	rs398123353(A;A)
Reference	Rs398123353(G;G)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed	1
HGVS	NC_000003.11:g.33109783C>T
CLNSRC	ClinVar
CLNACC	RCV000078713.3, RCV000178084.1, RCV000178085.1, RCV000178086.1, RCV000178087.1,