rs797046031
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs797046031(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 33435614 |
| Gene | SYNGAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797046031 |
| dbSNP (classic) | rs797046031 |
| ClinGen | rs797046031 |
| ebi | rs797046031 |
| HLI | rs797046031 |
| Exac | rs797046031 |
| Gnomad | rs797046031 |
| Varsome | rs797046031 |
| LitVar | rs797046031 |
| Map | rs797046031 |
| PheGenI | rs797046031 |
| Biobank | rs797046031 |
| 1000 genomes | rs797046031 |
| hgdp | rs797046031 |
| ensembl | rs797046031 |
| geneview | rs797046031 |
| scholar | rs797046031 |
| rs797046031 | |
| pharmgkb | rs797046031 |
| gwascentral | rs797046031 |
| openSNP | rs797046031 |
| 23andMe | rs797046031 |
| SNPshot | rs797046031 |
| SNPdbe | rs797046031 |
| MSV3d | rs797046031 |
| GWAS Ctlg | rs797046031 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797046031(T;T) |
| Alt | rs797046031(T;T) |
| Reference | Rs797046031(G;G) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | SYNGAP1 |
| CLNDBN | Mental retardation, autosomal dominant 5 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.33403391G>T |
| CLNSRC | |
| CLNACC | RCV000193233.1, |
