rs794729217

Orientation

minus

Stabilized

minus

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

Make rs794729217(-;G)

Make rs794729217(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

33014217

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs794729217
dbSNP (classic)	rs794729217
ClinGen	rs794729217
ebi	rs794729217
HLI	rs794729217
Exac	rs794729217
Gnomad	rs794729217
Varsome	rs794729217
LitVar	rs794729217
Map	rs794729217
PheGenI	rs794729217
Biobank	rs794729217
1000 genomes	rs794729217
hgdp	rs794729217
ensembl	rs794729217
geneview	rs794729217
scholar	rs794729217
google	rs794729217
pharmgkb	rs794729217
gwascentral	rs794729217
openSNP	rs794729217
23andMe	rs794729217
SNPshot	rs794729217
SNPdbe	rs794729217
MSV3d	rs794729217
GWAS Ctlg	rs794729217

Max Magnitude

0

ClinVar
Risk	rs794729217(G;G)
Alt	rs794729217(G;G)
Reference	Rs794729217(-;-)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis
Reversed	1
HGVS	NC_000003.11:g.33055710dupC
CLNSRC
CLNACC	RCV000184037.1,