rs192044702

Orientation

plus

Stabilized

plus

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

Make rs192044702(A;G)

Make rs192044702(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

81648854

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs192044702
dbSNP (classic)	rs192044702
ClinGen	rs192044702
ebi	rs192044702
HLI	rs192044702
Exac	rs192044702
Gnomad	rs192044702
Varsome	rs192044702
LitVar	rs192044702
Map	rs192044702
PheGenI	rs192044702
Biobank	rs192044702
1000 genomes	rs192044702
hgdp	rs192044702
ensembl	rs192044702
geneview	rs192044702
scholar	rs192044702
google	rs192044702
pharmgkb	rs192044702
gwascentral	rs192044702
openSNP	rs192044702
23andMe	rs192044702
SNPshot	rs192044702
SNPdbe	rs192044702
MSV3d	rs192044702
GWAS Ctlg	rs192044702

Max Magnitude

0

ClinVar
Risk	rs192044702(G;G)
Alt	rs192044702(G;G)
Reference	Rs192044702(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease not provided GBE1-Related Disorders
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease, type IV not provided GBE1-Related Disorders
Reversed	0
HGVS	NC_000003.11:g.81698005A>G
CLNSRC
CLNACC	RCV000190589.2, RCV000224184.2, RCV000368399.1,