rs878855328
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs878855328(A;A) |
| Make rs878855328(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 11117039 |
| Gene | MTOR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878855328 |
| dbSNP (classic) | rs878855328 |
| ClinGen | rs878855328 |
| ebi | rs878855328 |
| HLI | rs878855328 |
| Exac | rs878855328 |
| Gnomad | rs878855328 |
| Varsome | rs878855328 |
| LitVar | rs878855328 |
| Map | rs878855328 |
| PheGenI | rs878855328 |
| Biobank | rs878855328 |
| 1000 genomes | rs878855328 |
| hgdp | rs878855328 |
| ensembl | rs878855328 |
| geneview | rs878855328 |
| scholar | rs878855328 |
| rs878855328 | |
| pharmgkb | rs878855328 |
| gwascentral | rs878855328 |
| openSNP | rs878855328 |
| 23andMe | rs878855328 |
| SNPshot | rs878855328 |
| SNPdbe | rs878855328 |
| MSV3d | rs878855328 |
| GWAS Ctlg | rs878855328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs878855328(A;A) |
| Alt | rs878855328(A;A) |
| Reference | Rs878855328(G;G) |
| Significance | Pathogenic |
| Disease | Smith-Kingsmore syndrome |
| Variation | info |
| Gene | MTOR |
| CLNDBN | Smith-Kingsmore syndrome |
| Reversed | 1 |
| HGVS | NC_000001.10:g.11177096C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234811.1, |
