rs137852890

Orientation

minus

Stabilized

minus

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

Make rs137852890(G;T)

Make rs137852890(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81536940

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs137852890
dbSNP (classic)	rs137852890
ClinGen	rs137852890
ebi	rs137852890
HLI	rs137852890
Exac	rs137852890
Gnomad	rs137852890
Varsome	rs137852890
LitVar	rs137852890
Map	rs137852890
PheGenI	rs137852890
Biobank	rs137852890
1000 genomes	rs137852890
hgdp	rs137852890
ensembl	rs137852890
geneview	rs137852890
scholar	rs137852890
google	rs137852890
pharmgkb	rs137852890
gwascentral	rs137852890
openSNP	rs137852890
23andMe	rs137852890
SNPshot	rs137852890
SNPdbe	rs137852890
MSV3d	rs137852890
GWAS Ctlg	rs137852890

Max Magnitude

0

OMIM	607839
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137852890(A;A) rs137852890(T;T)
Alt	rs137852890(A;A) rs137852890(T;T)
Reference	Rs137852890(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.81586091C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002920.1, RCV000056097.1,