rs137852891
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137852891(A;G) |
Make rs137852891(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 81535246 |
Gene | GBE1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852891 |
dbSNP (classic) | rs137852891 |
ClinGen | rs137852891 |
ebi | rs137852891 |
HLI | rs137852891 |
Exac | rs137852891 |
Gnomad | rs137852891 |
Varsome | rs137852891 |
LitVar | rs137852891 |
Map | rs137852891 |
PheGenI | rs137852891 |
Biobank | rs137852891 |
1000 genomes | rs137852891 |
hgdp | rs137852891 |
ensembl | rs137852891 |
geneview | rs137852891 |
scholar | rs137852891 |
rs137852891 | |
pharmgkb | rs137852891 |
gwascentral | rs137852891 |
openSNP | rs137852891 |
23andMe | rs137852891 |
SNPshot | rs137852891 |
SNPdbe | rs137852891 |
MSV3d | rs137852891 |
GWAS Ctlg | rs137852891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852891(G;G) |
Alt | rs137852891(G;G) |
Reference | Rs137852891(A;A) |
Significance | Pathogenic |
Disease | Glycogen storage disease IV Glycogen storage disease |
Variation | info |
Gene | GBE1 |
CLNDBN | Glycogen storage disease IV, childhood neuromuscular Glycogen storage disease, type IV |
Reversed | 1 |
HGVS | NC_000003.11:g.81584397T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002922.3, RCV000056098.1, |