rs587776526

Orientation

plus

Stabilized

plus

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

Make rs587776526(C;C)

Make rs587776526(C;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

33014312

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs587776526
dbSNP (classic)	rs587776526
ClinGen	rs587776526
ebi	rs587776526
HLI	rs587776526
Exac	rs587776526
Gnomad	rs587776526
Varsome	rs587776526
LitVar	rs587776526
Map	rs587776526
PheGenI	rs587776526
Biobank	rs587776526
1000 genomes	rs587776526
hgdp	rs587776526
ensembl	rs587776526
geneview	rs587776526
scholar	rs587776526
google	rs587776526
pharmgkb	rs587776526
gwascentral	rs587776526
openSNP	rs587776526
23andMe	rs587776526
SNPshot	rs587776526
SNPdbe	rs587776526
MSV3d	rs587776526
GWAS Ctlg	rs587776526

Max Magnitude

0

ClinVar
Risk	rs587776526(C;C)
Alt	rs587776526(C;C)
Reference	Rs587776526(T;T)
Significance	Pathogenic
Disease	GM1-gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	GM1-gangliosidosis, type I, with cardiac involvement
Reversed	0
HGVS	NC_000003.11:g.33055804T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000996.3,