rs80359823
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80359823(C;T) |
| Make rs80359823(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 42929298 |
| Gene | SLC2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359823 |
| dbSNP (classic) | rs80359823 |
| ClinGen | rs80359823 |
| ebi | rs80359823 |
| HLI | rs80359823 |
| Exac | rs80359823 |
| Gnomad | rs80359823 |
| Varsome | rs80359823 |
| LitVar | rs80359823 |
| Map | rs80359823 |
| PheGenI | rs80359823 |
| Biobank | rs80359823 |
| 1000 genomes | rs80359823 |
| hgdp | rs80359823 |
| ensembl | rs80359823 |
| geneview | rs80359823 |
| scholar | rs80359823 |
| rs80359823 | |
| pharmgkb | rs80359823 |
| gwascentral | rs80359823 |
| openSNP | rs80359823 |
| 23andMe | rs80359823 |
| SNPshot | rs80359823 |
| SNPdbe | rs80359823 |
| MSV3d | rs80359823 |
| GWAS Ctlg | rs80359823 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80359823(T;T) |
| Alt | rs80359823(T;T) |
| Reference | Rs80359823(C;C) |
| Significance | Pathogenic |
| Disease | not provided GLUT1 deficiency syndrome 1 |
| Variation | info |
| Gene | SLC2A1 |
| CLNDBN | not provided GLUT1 deficiency syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.43394969G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000189397.3, RCV000193872.1, |
[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
