rs137852892

Orientation

minus

Stabilized

minus

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

Make rs137852892(C;C)

Make rs137852892(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81646466

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs137852892
dbSNP (classic)	rs137852892
ClinGen	rs137852892
ebi	rs137852892
HLI	rs137852892
Exac	rs137852892
Gnomad	rs137852892
Varsome	rs137852892
LitVar	rs137852892
Map	rs137852892
PheGenI	rs137852892
Biobank	rs137852892
1000 genomes	rs137852892
hgdp	rs137852892
ensembl	rs137852892
geneview	rs137852892
scholar	rs137852892
google	rs137852892
pharmgkb	rs137852892
gwascentral	rs137852892
openSNP	rs137852892
23andMe	rs137852892
SNPshot	rs137852892
SNPdbe	rs137852892
MSV3d	rs137852892
GWAS Ctlg	rs137852892

Max Magnitude

0

OMIM	607839
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137852892(C;C)
Alt	rs137852892(C;C)
Reference	Rs137852892(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IV
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease IV, congenital neuromuscular
Reversed	1
HGVS	NC_000003.11:g.81695617C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002924.1,