rs202237232

Orientation

plus

Stabilized

plus

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

Make rs202237232(C;C)

Make rs202237232(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

33018485

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs202237232
dbSNP (classic)	rs202237232
ClinGen	rs202237232
ebi	rs202237232
HLI	rs202237232
Exac	rs202237232
Gnomad	rs202237232
Varsome	rs202237232
LitVar	rs202237232
Map	rs202237232
PheGenI	rs202237232
Biobank	rs202237232
1000 genomes	rs202237232
hgdp	rs202237232
ensembl	rs202237232
geneview	rs202237232
scholar	rs202237232
google	rs202237232
pharmgkb	rs202237232
gwascentral	rs202237232
openSNP	rs202237232
23andMe	rs202237232
SNPshot	rs202237232
SNPdbe	rs202237232
MSV3d	rs202237232
GWAS Ctlg	rs202237232

Max Magnitude

0

ClinVar
Risk	rs202237232(A;A) rs202237232(C;C) rs202237232(G;G)
Alt	rs202237232(A;A) rs202237232(C;C) rs202237232(G;G)
Reference	Rs202237232(T;T)
Significance	Probable-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	0
HGVS	NC_000003.11:g.33059977T>A
CLNSRC
CLNACC	RCV000078702.3, RCV000174472.1, RCV000174473.1, RCV000174474.1, RCV000174475.1,