rs80359829
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs80359829(A;T) |
| Make rs80359829(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 42927154 |
| Gene | SLC2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359829 |
| dbSNP (classic) | rs80359829 |
| ClinGen | rs80359829 |
| ebi | rs80359829 |
| HLI | rs80359829 |
| Exac | rs80359829 |
| Gnomad | rs80359829 |
| Varsome | rs80359829 |
| LitVar | rs80359829 |
| Map | rs80359829 |
| PheGenI | rs80359829 |
| Biobank | rs80359829 |
| 1000 genomes | rs80359829 |
| hgdp | rs80359829 |
| ensembl | rs80359829 |
| geneview | rs80359829 |
| scholar | rs80359829 |
| rs80359829 | |
| pharmgkb | rs80359829 |
| gwascentral | rs80359829 |
| openSNP | rs80359829 |
| 23andMe | rs80359829 |
| SNPshot | rs80359829 |
| SNPdbe | rs80359829 |
| MSV3d | rs80359829 |
| GWAS Ctlg | rs80359829 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80359829(T;T) |
| Alt | rs80359829(T;T) |
| Reference | Rs80359829(A;A) |
| Significance | Pathogenic |
| Disease | GLUT1 deficiency syndrome 1 |
| Variation | info |
| Gene | SLC2A1 |
| CLNDBN | GLUT1 deficiency syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.43392825T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017486.24, |
[PMID 9462754] GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
