rs398123351

Orientation

minus

Stabilized

minus

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

Make rs398123351(A;A)

Make rs398123351(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

32997310

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs398123351
dbSNP (classic)	rs398123351
ClinGen	rs398123351
ebi	rs398123351
HLI	rs398123351
Exac	rs398123351
Gnomad	rs398123351
Varsome	rs398123351
LitVar	rs398123351
Map	rs398123351
PheGenI	rs398123351
Biobank	rs398123351
1000 genomes	rs398123351
hgdp	rs398123351
ensembl	rs398123351
geneview	rs398123351
scholar	rs398123351
google	rs398123351
pharmgkb	rs398123351
gwascentral	rs398123351
openSNP	rs398123351
23andMe	rs398123351
SNPshot	rs398123351
SNPdbe	rs398123351
MSV3d	rs398123351
GWAS Ctlg	rs398123351

Max Magnitude

0

ClinVar
Risk	rs398123351(A;A)
Alt	rs398123351(A;A)
Reference	Rs398123351(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.33038802C>T
CLNSRC	HGMD
CLNACC	RCV000078707.3, RCV000174999.1, RCV000175000.1, RCV000175001.1, RCV000175002.1,