rs72555361

Orientation

minus

Stabilized

minus

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

Make rs72555361(A;G)

Make rs72555361(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33051766

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555361
dbSNP (classic)	rs72555361
ClinGen	rs72555361
ebi	rs72555361
HLI	rs72555361
Exac	rs72555361
Gnomad	rs72555361
Varsome	rs72555361
LitVar	rs72555361
Map	rs72555361
PheGenI	rs72555361
Biobank	rs72555361
1000 genomes	rs72555361
hgdp	rs72555361
ensembl	rs72555361
geneview	rs72555361
scholar	rs72555361
google	rs72555361
pharmgkb	rs72555361
gwascentral	rs72555361
openSNP	rs72555361
23andMe	rs72555361
SNPshot	rs72555361
SNPdbe	rs72555361
MSV3d	rs72555361
GWAS Ctlg	rs72555361

Max Magnitude

0

OMIM	611458
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72555361(G;G)
Alt	rs72555361(G;G)
Reference	Rs72555361(A;A)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis
Reversed	1
HGVS	NC_000003.11:g.33093258T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000977.2,