rs192732174

Orientation

plus

Stabilized

plus

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

Make rs192732174(A;A)

Make rs192732174(A;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

33068245

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs192732174
dbSNP (classic)	rs192732174
ClinGen	rs192732174
ebi	rs192732174
HLI	rs192732174
Exac	rs192732174
Gnomad	rs192732174
Varsome	rs192732174
LitVar	rs192732174
Map	rs192732174
PheGenI	rs192732174
Biobank	rs192732174
1000 genomes	rs192732174
hgdp	rs192732174
ensembl	rs192732174
geneview	rs192732174
scholar	rs192732174
google	rs192732174
pharmgkb	rs192732174
gwascentral	rs192732174
openSNP	rs192732174
23andMe	rs192732174
SNPshot	rs192732174
SNPdbe	rs192732174
MSV3d	rs192732174
GWAS Ctlg	rs192732174

Max Magnitude

0

ClinVar
Risk	rs192732174(A;A) rs192732174(T;T)
Alt	rs192732174(A;A) rs192732174(T;T)
Reference	Rs192732174(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	0
HGVS	NC_000003.11:g.33109737G>A
CLNSRC	HGMD
CLNACC	RCV000078714.3, RCV000178092.1, RCV000178093.1, RCV000178094.1, RCV000178095.1,