rs398123354

Orientation

minus

Stabilized

minus

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

Make rs398123354(C;C)

Make rs398123354(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33068228

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs398123354
dbSNP (classic)	rs398123354
ClinGen	rs398123354
ebi	rs398123354
HLI	rs398123354
Exac	rs398123354
Gnomad	rs398123354
Varsome	rs398123354
LitVar	rs398123354
Map	rs398123354
PheGenI	rs398123354
Biobank	rs398123354
1000 genomes	rs398123354
hgdp	rs398123354
ensembl	rs398123354
geneview	rs398123354
scholar	rs398123354
google	rs398123354
pharmgkb	rs398123354
gwascentral	rs398123354
openSNP	rs398123354
23andMe	rs398123354
SNPshot	rs398123354
SNPdbe	rs398123354
MSV3d	rs398123354
GWAS Ctlg	rs398123354

Max Magnitude

0

ClinVar
Risk	rs398123354(C;C)
Alt	rs398123354(C;C)
Reference	Rs398123354(T;T)
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.33109720A>G
CLNSRC	ClinVar
CLNACC	RCV000078715.3, RCV000178088.1, RCV000178089.1, RCV000178090.1, RCV000178091.1,