rs137852887

Orientation

minus

Stabilized

minus

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

Make rs137852887(A;A)

Make rs137852887(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81646403

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs137852887
dbSNP (classic)	rs137852887
ClinGen	rs137852887
ebi	rs137852887
HLI	rs137852887
Exac	rs137852887
Gnomad	rs137852887
Varsome	rs137852887
LitVar	rs137852887
Map	rs137852887
PheGenI	rs137852887
Biobank	rs137852887
1000 genomes	rs137852887
hgdp	rs137852887
ensembl	rs137852887
geneview	rs137852887
scholar	rs137852887
google	rs137852887
pharmgkb	rs137852887
gwascentral	rs137852887
openSNP	rs137852887
23andMe	rs137852887
SNPshot	rs137852887
SNPdbe	rs137852887
MSV3d	rs137852887
GWAS Ctlg	rs137852887

Max Magnitude

0

OMIM	607839
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852887(A;A)
Alt	rs137852887(A;A)
Reference	Rs137852887(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease IV Glycogen storage disease not provided
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV not provided
Reversed	1
HGVS	NC_000003.11:g.81695554A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002912.3, RCV000056143.1, RCV000433912.1,