rs28934886

Orientation

minus

Stabilized

minus

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

Make rs28934886(A;A)

Make rs28934886(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33016818

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs28934886
dbSNP (classic)	rs28934886
ClinGen	rs28934886
ebi	rs28934886
HLI	rs28934886
Exac	rs28934886
Gnomad	rs28934886
Varsome	rs28934886
LitVar	rs28934886
Map	rs28934886
PheGenI	rs28934886
Biobank	rs28934886
1000 genomes	rs28934886
hgdp	rs28934886
ensembl	rs28934886
geneview	rs28934886
scholar	rs28934886
google	rs28934886
pharmgkb	rs28934886
gwascentral	rs28934886
openSNP	rs28934886
23andMe	rs28934886
SNPshot	rs28934886
SNPdbe	rs28934886
MSV3d	rs28934886
GWAS Ctlg	rs28934886

Max Magnitude

0

OMIM	230500
Desc	GM1-GANGLIOSIDOSIS, ADULT/CHRONIC TYPE
Variant	0008
Related	also

OMIM	611458
Desc
Variant	0008
Related	also

ClinVar
Risk	rs28934886(A;A)
Alt	rs28934886(A;A)
Reference	Rs28934886(G;G)
Significance	Pathogenic
Disease	Gangliosidosis GM1 type 3
Variation	info
Gene	TMPPE GLB1
CLNDBN	Gangliosidosis GM1 type 3
Reversed	1
HGVS	NC_000003.11:g.33058310C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000978.2,