rs72555370

Orientation

minus

Stabilized

minus

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

Make rs72555370(C;T)

Make rs72555370(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33072587

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555370
dbSNP (classic)	rs72555370
ClinGen	rs72555370
ebi	rs72555370
HLI	rs72555370
Exac	rs72555370
Gnomad	rs72555370
Varsome	rs72555370
LitVar	rs72555370
Map	rs72555370
PheGenI	rs72555370
Biobank	rs72555370
1000 genomes	rs72555370
hgdp	rs72555370
ensembl	rs72555370
geneview	rs72555370
scholar	rs72555370
google	rs72555370
pharmgkb	rs72555370
gwascentral	rs72555370
openSNP	rs72555370
23andMe	rs72555370
SNPshot	rs72555370
SNPdbe	rs72555370
MSV3d	rs72555370
GWAS Ctlg	rs72555370

Max Magnitude

0

OMIM	611458
Desc
Variant	0022
Related	also

ClinVar
Risk	rs72555370(T;T)
Alt	rs72555370(T;T)
Reference	Rs72555370(C;C)
Significance	Pathogenic
Disease	GM1 gangliosidosis type 2
Variation	info
Gene	TMPPE GLB1
CLNDBN	GM1 gangliosidosis type 2
Reversed	1
HGVS	NC_000003.11:g.33114079G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000993.2,