rs398123348

Orientation

minus

Stabilized

minus

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

Make rs398123348(-;-)

Make rs398123348(-;CT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33021624

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs398123348
dbSNP (classic)	rs398123348
ClinGen	rs398123348
ebi	rs398123348
HLI	rs398123348
Exac	rs398123348
Gnomad	rs398123348
Varsome	rs398123348
LitVar	rs398123348
Map	rs398123348
PheGenI	rs398123348
Biobank	rs398123348
1000 genomes	rs398123348
hgdp	rs398123348
ensembl	rs398123348
geneview	rs398123348
scholar	rs398123348
google	rs398123348
pharmgkb	rs398123348
gwascentral	rs398123348
openSNP	rs398123348
23andMe	rs398123348
SNPshot	rs398123348
SNPdbe	rs398123348
MSV3d	rs398123348
GWAS Ctlg	rs398123348

Max Magnitude

0

ClinVar
Risk	rs398123348(-;-)
Alt	rs398123348(-;-)
Reference	Rs398123348(CT;CT)
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.33063116_33063117delAG
CLNSRC	ClinVar
CLNACC	RCV000078699.3, RCV000174241.1, RCV000174242.1, RCV000174243.1, RCV000174244.1,