rs794727249

Orientation

minus

Stabilized

minus

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

Make rs794727249(-;-)

Make rs794727249(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

33072620

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs794727249
dbSNP (classic)	rs794727249
ClinGen	rs794727249
ebi	rs794727249
HLI	rs794727249
Exac	rs794727249
Gnomad	rs794727249
Varsome	rs794727249
LitVar	rs794727249
Map	rs794727249
PheGenI	rs794727249
Biobank	rs794727249
1000 genomes	rs794727249
hgdp	rs794727249
ensembl	rs794727249
geneview	rs794727249
scholar	rs794727249
google	rs794727249
pharmgkb	rs794727249
gwascentral	rs794727249
openSNP	rs794727249
23andMe	rs794727249
SNPshot	rs794727249
SNPdbe	rs794727249
MSV3d	rs794727249
GWAS Ctlg	rs794727249

Max Magnitude

0

ClinVar
Risk	rs794727249(-;-)
Alt	rs794727249(-;-)
Reference	Rs794727249(T;T)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3
Reversed	1
HGVS	NC_000003.11:g.33114112delA
CLNSRC
CLNACC	RCV000175596.1, RCV000175597.1, RCV000175598.1,