rs879253762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GT) | 8.8 | Mental retardation, type 5; SYNGAP1-related |
| (GT;GT) | 0 | common in clinvar |
| Make rs879253762(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 33443130 |
| Gene | SYNGAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253762 |
| dbSNP (classic) | rs879253762 |
| ClinGen | rs879253762 |
| ebi | rs879253762 |
| HLI | rs879253762 |
| Exac | rs879253762 |
| Gnomad | rs879253762 |
| Varsome | rs879253762 |
| LitVar | rs879253762 |
| Map | rs879253762 |
| PheGenI | rs879253762 |
| Biobank | rs879253762 |
| 1000 genomes | rs879253762 |
| hgdp | rs879253762 |
| ensembl | rs879253762 |
| geneview | rs879253762 |
| scholar | rs879253762 |
| rs879253762 | |
| pharmgkb | rs879253762 |
| gwascentral | rs879253762 |
| openSNP | rs879253762 |
| 23andMe | rs879253762 |
| SNPshot | rs879253762 |
| SNPdbe | rs879253762 |
| MSV3d | rs879253762 |
| GWAS Ctlg | rs879253762 |
| Max Magnitude | 8.8 |
| ClinVar | |
|---|---|
| Risk | rs879253762(-;-) |
| Alt | rs879253762(-;-) |
| Reference | Rs879253762(GT;GT) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | SYNGAP1 |
| CLNDBN | Mental retardation, autosomal dominant 5 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.33410907_33410908delGT |
| CLNSRC | University Hospital of Geneva |
| CLNACC | RCV000234890.1, |
