rs398123347

Orientation

minus

Stabilized

minus

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

Make rs398123347(C;T)

Make rs398123347(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33046184

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs398123347
dbSNP (classic)	rs398123347
ClinGen	rs398123347
ebi	rs398123347
HLI	rs398123347
Exac	rs398123347
Gnomad	rs398123347
Varsome	rs398123347
LitVar	rs398123347
Map	rs398123347
PheGenI	rs398123347
Biobank	rs398123347
1000 genomes	rs398123347
hgdp	rs398123347
ensembl	rs398123347
geneview	rs398123347
scholar	rs398123347
google	rs398123347
pharmgkb	rs398123347
gwascentral	rs398123347
openSNP	rs398123347
23andMe	rs398123347
SNPshot	rs398123347
SNPdbe	rs398123347
MSV3d	rs398123347
GWAS Ctlg	rs398123347

Max Magnitude

0

ClinVar
Risk	rs398123347(T;T)
Alt	rs398123347(T;T)
Reference	Rs398123347(C;C)
Significance	Probable-Pathogenic
Disease	not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis Gangliosidosis GM1 type 3
Variation	info
Gene	TMPPE GLB1
CLNDBN	not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3
Reversed	1
HGVS	NC_000003.11:g.33087676G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000078698.3, RCV000173683.1, RCV000173684.1, RCV000173685.1, RCV000173686.1,