rs137852894

Orientation

minus

Stabilized

minus

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

Make rs137852894(A;A)

Make rs137852894(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81537071

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs137852894
dbSNP (classic)	rs137852894
ClinGen	rs137852894
ebi	rs137852894
HLI	rs137852894
Exac	rs137852894
Gnomad	rs137852894
Varsome	rs137852894
LitVar	rs137852894
Map	rs137852894
PheGenI	rs137852894
Biobank	rs137852894
1000 genomes	rs137852894
hgdp	rs137852894
ensembl	rs137852894
geneview	rs137852894
scholar	rs137852894
google	rs137852894
pharmgkb	rs137852894
gwascentral	rs137852894
openSNP	rs137852894
23andMe	rs137852894
SNPshot	rs137852894
SNPdbe	rs137852894
MSV3d	rs137852894
GWAS Ctlg	rs137852894

Max Magnitude

0

OMIM	607839
Desc
Variant	0018
Related	also

ClinVar
Risk	rs137852894(A;A)
Alt	rs137852894(A;A)
Reference	Rs137852894(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IV Glycogen storage disease
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease IV, congenital neuromuscular Glycogen storage disease, type IV
Reversed	1
HGVS	NC_000003.11:g.81586222C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002927.1, RCV000056096.1,