rs150203483
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs150203483(C;T) |
| Make rs150203483(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 6695759 |
| Gene | SLC13A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150203483 |
| dbSNP (classic) | rs150203483 |
| ClinGen | rs150203483 |
| ebi | rs150203483 |
| HLI | rs150203483 |
| Exac | rs150203483 |
| Gnomad | rs150203483 |
| Varsome | rs150203483 |
| LitVar | rs150203483 |
| Map | rs150203483 |
| PheGenI | rs150203483 |
| Biobank | rs150203483 |
| 1000 genomes | rs150203483 |
| hgdp | rs150203483 |
| ensembl | rs150203483 |
| geneview | rs150203483 |
| scholar | rs150203483 |
| rs150203483 | |
| pharmgkb | rs150203483 |
| gwascentral | rs150203483 |
| openSNP | rs150203483 |
| 23andMe | rs150203483 |
| SNPshot | rs150203483 |
| SNPdbe | rs150203483 |
| MSV3d | rs150203483 |
| GWAS Ctlg | rs150203483 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150203483(T;T) |
| Alt | rs150203483(T;T) |
| Reference | Rs150203483(C;C) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy |
| Variation | info |
| Gene | SLC13A5 |
| CLNDBN | Epileptic encephalopathy, early infantile, 25 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.6599078C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202400.1, |
