rs786205866
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs786205866(A;A) |
| Make rs786205866(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 20 |
| Position | 63495062 |
| Gene | EEF1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205866 |
| dbSNP (classic) | rs786205866 |
| ClinGen | rs786205866 |
| ebi | rs786205866 |
| HLI | rs786205866 |
| Exac | rs786205866 |
| Gnomad | rs786205866 |
| Varsome | rs786205866 |
| LitVar | rs786205866 |
| Map | rs786205866 |
| PheGenI | rs786205866 |
| Biobank | rs786205866 |
| 1000 genomes | rs786205866 |
| hgdp | rs786205866 |
| ensembl | rs786205866 |
| geneview | rs786205866 |
| scholar | rs786205866 |
| rs786205866 | |
| pharmgkb | rs786205866 |
| gwascentral | rs786205866 |
| openSNP | rs786205866 |
| 23andMe | rs786205866 |
| SNPshot | rs786205866 |
| SNPdbe | rs786205866 |
| MSV3d | rs786205866 |
| GWAS Ctlg | rs786205866 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786205866(A;A) |
| Alt | rs786205866(A;A) |
| Reference | Rs786205866(G;G) |
| Significance | Pathogenic |
| Disease | Mental retardation Epileptic encephalopathy |
| Variation | info |
| Gene | EEF1A2 |
| CLNDBN | Mental retardation, autosomal dominant 38 Epileptic encephalopathy, early infantile, 33 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.62126415C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000172840.2, RCV000193799.1, |
