rs587776524

Orientation

plus

Stabilized

plus

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

Make rs587776524(-;GGCCAGGGCTCATGAAAGTTCCA)

Make rs587776524(GGCCAGGGCTCATGAAAGTTCCA;GGCCAGGGCTCATGAAAGTTCCA)

Reference

GRCh38 38.1/142

Chromosome

3

Position

33068960

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs587776524
dbSNP (classic)	rs587776524
ClinGen	rs587776524
ebi	rs587776524
HLI	rs587776524
Exac	rs587776524
Gnomad	rs587776524
Varsome	rs587776524
LitVar	rs587776524
Map	rs587776524
PheGenI	rs587776524
Biobank	rs587776524
1000 genomes	rs587776524
hgdp	rs587776524
ensembl	rs587776524
geneview	rs587776524
scholar	rs587776524
google	rs587776524
pharmgkb	rs587776524
gwascentral	rs587776524
openSNP	rs587776524
23andMe	rs587776524
SNPshot	rs587776524
SNPdbe	rs587776524
MSV3d	rs587776524
GWAS Ctlg	rs587776524

Max Magnitude

0

ClinVar
Risk	rs587776524(GGCCAGGGCTCATGAAAGTTCCA;GGCCAGGGCTCATGAAAGTTCCA)
Alt	rs587776524(GGCCAGGGCTCATGAAAGTTCCA;GGCCAGGGCTCATGAAAGTTCCA)
Reference	Rs587776524(-;-)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis
Reversed	0
HGVS	NC_000003.11:g.33110430_33110452dup23
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000983.2,