rs398123350

Orientation

minus

Stabilized

minus

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

Make rs398123350(C;G)

Make rs398123350(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33072618

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs398123350
dbSNP (classic)	rs398123350
ClinGen	rs398123350
ebi	rs398123350
HLI	rs398123350
Exac	rs398123350
Gnomad	rs398123350
Varsome	rs398123350
LitVar	rs398123350
Map	rs398123350
PheGenI	rs398123350
Biobank	rs398123350
1000 genomes	rs398123350
hgdp	rs398123350
ensembl	rs398123350
geneview	rs398123350
scholar	rs398123350
google	rs398123350
pharmgkb	rs398123350
gwascentral	rs398123350
openSNP	rs398123350
23andMe	rs398123350
SNPshot	rs398123350
SNPdbe	rs398123350
MSV3d	rs398123350
GWAS Ctlg	rs398123350

Max Magnitude

0

ClinVar
Risk	rs398123350(G;G) rs398123350(T;T)
Alt	rs398123350(G;G) rs398123350(T;T)
Reference	Rs398123350(C;C)
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.33114110G>C
CLNSRC	HGMD
CLNACC	RCV000078706.3, RCV000175602.1, RCV000175603.1, RCV000175604.1, RCV000175605.1,