rs371546950

Orientation

plus

Stabilized

plus

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

Make rs371546950(C;C)

Make rs371546950(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

33051988

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs371546950
dbSNP (classic)	rs371546950
ClinGen	rs371546950
ebi	rs371546950
HLI	rs371546950
Exac	rs371546950
Gnomad	rs371546950
Varsome	rs371546950
LitVar	rs371546950
Map	rs371546950
PheGenI	rs371546950
Biobank	rs371546950
1000 genomes	rs371546950
hgdp	rs371546950
ensembl	rs371546950
geneview	rs371546950
scholar	rs371546950
google	rs371546950
pharmgkb	rs371546950
gwascentral	rs371546950
openSNP	rs371546950
23andMe	rs371546950
SNPshot	rs371546950
SNPdbe	rs371546950
MSV3d	rs371546950
GWAS Ctlg	rs371546950

Max Magnitude

0

ClinVar
Risk	rs371546950(C;C) rs371546950(G;G)
Alt	rs371546950(C;C) rs371546950(G;G)
Reference	Rs371546950(T;T)
Significance	Probable-Pathogenic
Disease	Infantile GM1 gangliosidosis not specified
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis not specified
Reversed	0
HGVS	NC_000003.11:g.33093480T>C; NC_000003.11:g.33093480T>G
CLNSRC
CLNACC	RCV000180154.1, RCV000180159.1,