rs2229519

Orientation

minus

Stabilized

minus

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

Make rs2229519(A;G)

Make rs2229519(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81648979

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs2229519
dbSNP (classic)	rs2229519
ClinGen	rs2229519
ebi	rs2229519
HLI	rs2229519
Exac	rs2229519
Gnomad	rs2229519
Varsome	rs2229519
LitVar	rs2229519
Map	rs2229519
PheGenI	rs2229519
Biobank	rs2229519
1000 genomes	rs2229519
hgdp	rs2229519
ensembl	rs2229519
geneview	rs2229519
scholar	rs2229519
google	rs2229519
pharmgkb	rs2229519
gwascentral	rs2229519
openSNP	rs2229519
23andMe	rs2229519
SNPshot	rs2229519
SNPdbe	rs2229519
MSV3d	rs2229519
GWAS Ctlg	rs2229519

GMAF

0.3274

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.

ClinVar
Risk	rs2229519(G;G) rs2229519(T;T)
Alt	rs2229519(G;G) rs2229519(T;T)
Reference	Rs2229519(A;A)
Significance	Non-pathogenic
Disease	not specified Glycogen storage disease Polyglucosan body disease
Variation	info
Gene	GBE1
CLNDBN	not specified Glycogen storage disease, type IV Polyglucosan body disease, adult
Reversed	1
HGVS	NC_000003.11:g.81698130T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178721.3, RCV000318439.1, RCV000375379.1,