rs376663785

Orientation

plus

Stabilized

plus

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

Make rs376663785(A;C)

Make rs376663785(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

33051989

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs376663785
dbSNP (classic)	rs376663785
ClinGen	rs376663785
ebi	rs376663785
HLI	rs376663785
Exac	rs376663785
Gnomad	rs376663785
Varsome	rs376663785
LitVar	rs376663785
Map	rs376663785
PheGenI	rs376663785
Biobank	rs376663785
1000 genomes	rs376663785
hgdp	rs376663785
ensembl	rs376663785
geneview	rs376663785
scholar	rs376663785
google	rs376663785
pharmgkb	rs376663785
gwascentral	rs376663785
openSNP	rs376663785
23andMe	rs376663785
SNPshot	rs376663785
SNPdbe	rs376663785
MSV3d	rs376663785
GWAS Ctlg	rs376663785

Max Magnitude

0

ClinVar
Risk	rs376663785(C;C)
Alt	rs376663785(C;C)
Reference	Rs376663785(A;A)
Significance	Pathogenic
Disease	Infantile GM1 gangliosidosis Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B
Reversed	0
HGVS	NC_000003.11:g.33093481A>C
CLNSRC
CLNACC	RCV000347612.1, RCV000394616.1,