rs371582179

Orientation

plus

Stabilized

plus

Make rs371582179(C;C)

Make rs371582179(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

33014057

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs371582179
dbSNP (classic)	rs371582179
ClinGen	rs371582179
ebi	rs371582179
HLI	rs371582179
Exac	rs371582179
Gnomad	rs371582179
Varsome	rs371582179
LitVar	rs371582179
Map	rs371582179
PheGenI	rs371582179
Biobank	rs371582179
1000 genomes	rs371582179
hgdp	rs371582179
ensembl	rs371582179
geneview	rs371582179
scholar	rs371582179
google	rs371582179
pharmgkb	rs371582179
gwascentral	rs371582179
openSNP	rs371582179
23andMe	rs371582179
SNPshot	rs371582179
SNPdbe	rs371582179
MSV3d	rs371582179
GWAS Ctlg	rs371582179

Max Magnitude

0

ClinVar
Risk	rs371582179(C;C)
Alt	rs371582179(C;C)
Reference	Rs371582179(T;T)
Significance	Pathogenic
Disease	GM1 gangliosidosis type 2
Variation	info
Gene	TMPPE GLB1
CLNDBN	GM1 gangliosidosis type 2
Reversed	0
HGVS	NC_000003.11:g.33055549T>C
CLNSRC
CLNACC	RCV000239412.1,