rs572237881

Orientation

plus

Stabilized

plus

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

Make rs572237881(C;T)

Make rs572237881(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

33072586

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs572237881
dbSNP (classic)	rs572237881
ClinGen	rs572237881
ebi	rs572237881
HLI	rs572237881
Exac	rs572237881
Gnomad	rs572237881
Varsome	rs572237881
LitVar	rs572237881
Map	rs572237881
PheGenI	rs572237881
Biobank	rs572237881
1000 genomes	rs572237881
hgdp	rs572237881
ensembl	rs572237881
geneview	rs572237881
scholar	rs572237881
google	rs572237881
pharmgkb	rs572237881
gwascentral	rs572237881
openSNP	rs572237881
23andMe	rs572237881
SNPshot	rs572237881
SNPdbe	rs572237881
MSV3d	rs572237881
GWAS Ctlg	rs572237881

Max Magnitude

0

ClinVar
Risk	rs572237881(T;T)
Alt	rs572237881(T;T)
Reference	Rs572237881(C;C)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis
Reversed	0
HGVS	NC_000003.11:g.33114078C>T
CLNSRC
CLNACC	RCV000175606.1,