rs201958741

Orientation

plus

Stabilized

plus

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

Make rs201958741(C;T)

Make rs201958741(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

81577999

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs201958741
dbSNP (classic)	rs201958741
ClinGen	rs201958741
ebi	rs201958741
HLI	rs201958741
Exac	rs201958741
Gnomad	rs201958741
Varsome	rs201958741
LitVar	rs201958741
Map	rs201958741
PheGenI	rs201958741
Biobank	rs201958741
1000 genomes	rs201958741
hgdp	rs201958741
ensembl	rs201958741
geneview	rs201958741
scholar	rs201958741
google	rs201958741
pharmgkb	rs201958741
gwascentral	rs201958741
openSNP	rs201958741
23andMe	rs201958741
SNPshot	rs201958741
SNPdbe	rs201958741
MSV3d	rs201958741
GWAS Ctlg	rs201958741

Max Magnitude

0

ClinVar
Risk	rs201958741(T;T)
Alt	rs201958741(T;T)
Reference	Rs201958741(C;C)
Significance	Pathogenic
Disease	Adult polyglucosan body neuropathy Polyglucosan body disease
Variation	info
Gene	GBE1
CLNDBN	Adult polyglucosan body neuropathy Polyglucosan body disease, adult
Reversed	0
HGVS	NC_000003.11:g.81627150C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000157612.4, RCV000347303.1,