rs80338671
From SNPedia
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 |
rs80338671 | |
pharmgkb | rs80338671 |
gwascentral | rs80338671 |
openSNP | rs80338671 |
23andMe | rs80338671 |
SNPshot | rs80338671 |
SNPdbe | rs80338671 |
MSV3d | rs80338671 |
GWAS Ctlg | rs80338671 |
Max Magnitude | 0 |
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.