rs398123349

Orientation

minus

Stabilized

minus

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

Make rs398123349(-;GGTGCATATAT)

Make rs398123349(GGTGCATATAT;GGTGCATATAT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33016721

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs398123349
dbSNP (classic)	rs398123349
ClinGen	rs398123349
ebi	rs398123349
HLI	rs398123349
Exac	rs398123349
Gnomad	rs398123349
Varsome	rs398123349
LitVar	rs398123349
Map	rs398123349
PheGenI	rs398123349
Biobank	rs398123349
1000 genomes	rs398123349
hgdp	rs398123349
ensembl	rs398123349
geneview	rs398123349
scholar	rs398123349
google	rs398123349
pharmgkb	rs398123349
gwascentral	rs398123349
openSNP	rs398123349
23andMe	rs398123349
SNPshot	rs398123349
SNPdbe	rs398123349
MSV3d	rs398123349
GWAS Ctlg	rs398123349

Max Magnitude

0

ClinVar
Risk	rs398123349(GGTGCATATAT;GGTGCATATAT)
Alt	rs398123349(GGTGCATATAT;GGTGCATATAT)
Reference	Rs398123349(-;-)
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.33058214_33058224dupATATATGCACC
CLNSRC	ClinVar
CLNACC	RCV000078704.3, RCV000174675.1, RCV000174676.1, RCV000174677.1, RCV000174678.1,