rs28934274

Orientation

minus

Stabilized

minus

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

Make rs28934274(A;A)

Make rs28934274(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33068849

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs28934274
dbSNP (classic)	rs28934274
ClinGen	rs28934274
ebi	rs28934274
HLI	rs28934274
Exac	rs28934274
Gnomad	rs28934274
Varsome	rs28934274
LitVar	rs28934274
Map	rs28934274
PheGenI	rs28934274
Biobank	rs28934274
1000 genomes	rs28934274
hgdp	rs28934274
ensembl	rs28934274
geneview	rs28934274
scholar	rs28934274
google	rs28934274
pharmgkb	rs28934274
gwascentral	rs28934274
openSNP	rs28934274
23andMe	rs28934274
SNPshot	rs28934274
SNPdbe	rs28934274
MSV3d	rs28934274
GWAS Ctlg	rs28934274

Max Magnitude

0

OMIM	230500
Desc	GM1-GANGLIOSIDOSIS, INFANTILE TYPE
Variant	0006
Related	also

OMIM	611458
Desc
Variant	0006
Related	also

ClinVar
Risk	rs28934274(A;A)
Alt	rs28934274(A;A)
Reference	Rs28934274(G;G)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis not provided
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis not provided
Reversed	1
HGVS	NC_000003.11:g.33110341C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000976.2, RCV000196532.1, RCV000428850.1,