rs398123356

Orientation

minus

Stabilized

minus

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

Make rs398123356(-;T)

Make rs398123356(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33097034

Gene	GLB1, TMPPE

is a	snp
is	mentioned by
dbSNP	rs398123356
dbSNP (classic)	rs398123356
ClinGen	rs398123356
ebi	rs398123356
HLI	rs398123356
Exac	rs398123356
Gnomad	rs398123356
Varsome	rs398123356
LitVar	rs398123356
Map	rs398123356
PheGenI	rs398123356
Biobank	rs398123356
1000 genomes	rs398123356
hgdp	rs398123356
ensembl	rs398123356
geneview	rs398123356
scholar	rs398123356
google	rs398123356
pharmgkb	rs398123356
gwascentral	rs398123356
openSNP	rs398123356
23andMe	rs398123356
SNPshot	rs398123356
SNPdbe	rs398123356
MSV3d	rs398123356
GWAS Ctlg	rs398123356

Max Magnitude

0

ClinVar
Risk	rs398123356(T;T)
Alt	rs398123356(T;T)
Reference	Rs398123356(-;-)
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.33138527dupA
CLNSRC	ClinVar
CLNACC	RCV000078718.3, RCV000173122.1, RCV000173123.1, RCV000173124.1, RCV000173125.1,