rs137852893

Orientation

minus

Stabilized

minus

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

Make rs137852893(C;T)

Make rs137852893(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81642989

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs137852893
dbSNP (classic)	rs137852893
ClinGen	rs137852893
ebi	rs137852893
HLI	rs137852893
Exac	rs137852893
Gnomad	rs137852893
Varsome	rs137852893
LitVar	rs137852893
Map	rs137852893
PheGenI	rs137852893
Biobank	rs137852893
1000 genomes	rs137852893
hgdp	rs137852893
ensembl	rs137852893
geneview	rs137852893
scholar	rs137852893
google	rs137852893
pharmgkb	rs137852893
gwascentral	rs137852893
openSNP	rs137852893
23andMe	rs137852893
SNPshot	rs137852893
SNPdbe	rs137852893
MSV3d	rs137852893
GWAS Ctlg	rs137852893

Max Magnitude

0

OMIM	607839
Desc
Variant	0016
Related	also

ClinVar
Risk	rs137852893(T;T)
Alt	rs137852893(T;T)
Reference	Rs137852893(C;C)
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.81692140G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002925.1,