rs80338671

Orientation

minus

Stabilized

minus

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

Make rs80338671(A;C)

Make rs80338671(C;C)

Reference

GRCh38 38.1/142

Chromosome

3

Position

81642787

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs80338671
dbSNP (classic)	rs80338671
ClinGen	rs80338671
ebi	rs80338671
HLI	rs80338671
Exac	rs80338671
Gnomad	rs80338671
Varsome	rs80338671
LitVar	rs80338671
Map	rs80338671
PheGenI	rs80338671
Biobank	rs80338671
1000 genomes	rs80338671
hgdp	rs80338671
ensembl	rs80338671
geneview	rs80338671
scholar	rs80338671
google	rs80338671
pharmgkb	rs80338671
gwascentral	rs80338671
openSNP	rs80338671
23andMe	rs80338671
SNPshot	rs80338671
SNPdbe	rs80338671
MSV3d	rs80338671
GWAS Ctlg	rs80338671

Max Magnitude

0

OMIM	607839
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338671(C;C) rs80338671(G;G)
Alt	rs80338671(C;C) rs80338671(G;G)
Reference	Rs80338671(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease not provided Glycogen storage disease IV Adult polyglucosan body neuropathy GBE1-Related Disorders
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease, type IV not provided Glycogen storage disease IV, nonprogressive hepatic Adult polyglucosan body neuropathy GBE1-Related Disorders
Reversed	1
HGVS	NC_000003.11:g.81691938T>C; NC_000003.11:g.81691938T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000410814.1, RCV000490240.1, RCV000002907.7, RCV000020163.1, RCV000150105.6, RCV000304728.1, RCV000493505.1,

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