rs587776525

Orientation

plus

Stabilized

plus

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

Make rs587776525(-;A)

Make rs587776525(A;A)

Reference

GRCh38 38.1/142

Chromosome

3

Position

33097009

Gene	GLB1, TMPPE

is a	snp
is	mentioned by
dbSNP	rs587776525
dbSNP (classic)	rs587776525
ClinGen	rs587776525
ebi	rs587776525
HLI	rs587776525
Exac	rs587776525
Gnomad	rs587776525
Varsome	rs587776525
LitVar	rs587776525
Map	rs587776525
PheGenI	rs587776525
Biobank	rs587776525
1000 genomes	rs587776525
hgdp	rs587776525
ensembl	rs587776525
geneview	rs587776525
scholar	rs587776525
google	rs587776525
pharmgkb	rs587776525
gwascentral	rs587776525
openSNP	rs587776525
23andMe	rs587776525
SNPshot	rs587776525
SNPdbe	rs587776525
MSV3d	rs587776525
GWAS Ctlg	rs587776525

Max Magnitude

0

ClinVar
Risk	rs587776525(A;A)
Alt	rs587776525(A;A)
Reference	Rs587776525(-;-)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis not provided
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis not provided
Reversed	0
HGVS	NC_000003.11:g.33138501dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000985.2, RCV000412989.1,