rs886044287
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Chromosome | 1 |
Position | 42929215 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044287 |
dbSNP (classic) | rs886044287 |
ClinGen | rs886044287 |
ebi | rs886044287 |
HLI | rs886044287 |
Exac | rs886044287 |
Gnomad | rs886044287 |
Varsome | rs886044287 |
LitVar | rs886044287 |
Map | rs886044287 |
PheGenI | rs886044287 |
Biobank | rs886044287 |
1000 genomes | rs886044287 |
hgdp | rs886044287 |
ensembl | rs886044287 |
geneview | rs886044287 |
scholar | rs886044287 |
rs886044287 | |
pharmgkb | rs886044287 |
gwascentral | rs886044287 |
openSNP | rs886044287 |
23andMe | rs886044287 |
SNPshot | rs886044287 |
SNPdbe | rs886044287 |
MSV3d | rs886044287 |
GWAS Ctlg | rs886044287 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044287(-;-) |
Alt | rs886044287(-;-) |
Reference | Rs886044287(CG;CG) |
Significance | Pathogenic |
Disease | GLUT1 deficiency syndrome 1 |
Variation | info |
Gene | SLC2A1 |
CLNDBN | GLUT1 deficiency syndrome 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.43394886_43394887delCG |
CLNSRC | |
CLNACC | RCV000341326.1, |