rs876657389
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs876657389(C;T) |
| Make rs876657389(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 110603569 |
| Gene | KCNA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs876657389 |
| dbSNP (classic) | rs876657389 |
| ClinGen | rs876657389 |
| ebi | rs876657389 |
| HLI | rs876657389 |
| Exac | rs876657389 |
| Gnomad | rs876657389 |
| Varsome | rs876657389 |
| LitVar | rs876657389 |
| Map | rs876657389 |
| PheGenI | rs876657389 |
| Biobank | rs876657389 |
| 1000 genomes | rs876657389 |
| hgdp | rs876657389 |
| ensembl | rs876657389 |
| geneview | rs876657389 |
| scholar | rs876657389 |
| rs876657389 | |
| pharmgkb | rs876657389 |
| gwascentral | rs876657389 |
| openSNP | rs876657389 |
| 23andMe | rs876657389 |
| SNPshot | rs876657389 |
| SNPdbe | rs876657389 |
| MSV3d | rs876657389 |
| GWAS Ctlg | rs876657389 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs876657389(T;T) |
| Alt | rs876657389(T;T) |
| Reference | Rs876657389(C;C) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy not provided |
| Variation | info |
| Gene | KCNA2 |
| CLNDBN | Epileptic encephalopathy, early infantile, 32 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.111146191G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000170511.3, RCV000407449.1, |
