rs587780473
From SNPedia
| Merged into | rs587780470 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs587780473(-;-) |
| Make rs587780473(-;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 33440835 |
| Gene | SYNGAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587780473 |
| dbSNP (classic) | rs587780473 |
| ClinGen | rs587780473 |
| ebi | rs587780473 |
| HLI | rs587780473 |
| Exac | rs587780473 |
| Gnomad | rs587780473 |
| Varsome | rs587780473 |
| LitVar | rs587780473 |
| Map | rs587780473 |
| PheGenI | rs587780473 |
| Biobank | rs587780473 |
| 1000 genomes | rs587780473 |
| hgdp | rs587780473 |
| ensembl | rs587780473 |
| geneview | rs587780473 |
| scholar | rs587780473 |
| rs587780473 | |
| pharmgkb | rs587780473 |
| gwascentral | rs587780473 |
| openSNP | rs587780473 |
| 23andMe | rs587780473 |
| SNPshot | rs587780473 |
| SNPdbe | rs587780473 |
| MSV3d | rs587780473 |
| GWAS Ctlg | rs587780473 |
| Status | Merged into rs587780470 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs587780473(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | SYNGAP1 |
| CLNDBN | Mental retardation, autosomal dominant 5 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.33408612delC |
| CLNSRC | |
| CLNACC | RCV000118565.3, |
