rs80338672

Orientation

minus

Stabilized

minus

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

Make rs80338672(C;T)

Make rs80338672(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81578000

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs80338672
dbSNP (classic)	rs80338672
ClinGen	rs80338672
ebi	rs80338672
HLI	rs80338672
Exac	rs80338672
Gnomad	rs80338672
Varsome	rs80338672
LitVar	rs80338672
Map	rs80338672
PheGenI	rs80338672
Biobank	rs80338672
1000 genomes	rs80338672
hgdp	rs80338672
ensembl	rs80338672
geneview	rs80338672
scholar	rs80338672
google	rs80338672
pharmgkb	rs80338672
gwascentral	rs80338672
openSNP	rs80338672
23andMe	rs80338672
SNPshot	rs80338672
SNPdbe	rs80338672
MSV3d	rs80338672
GWAS Ctlg	rs80338672

Max Magnitude

0

OMIM	607839
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80338672(T;T)
Alt	rs80338672(T;T)
Reference	Rs80338672(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease IV Glycogen storage disease Inborn genetic diseases
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases
Reversed	1
HGVS	NC_000003.11:g.81627151G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002910.6, RCV000020161.1, RCV000210646.1,

[PMID 8613547] Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

[PMID 10762170] Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.