rs1064792984
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CCCCAGCTCAGCAAGGTCAGCAGATC;CCCCAGCTCAGCAAGGTCAGCAGATC) | 0 | common in clinvar |
| Chromosome | 6 |
| Position | 33441363 |
| Gene | SYNGAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064792984 |
| dbSNP (classic) | rs1064792984 |
| ClinGen | rs1064792984 |
| ebi | rs1064792984 |
| HLI | rs1064792984 |
| Exac | rs1064792984 |
| Gnomad | rs1064792984 |
| Varsome | rs1064792984 |
| LitVar | rs1064792984 |
| Map | rs1064792984 |
| PheGenI | rs1064792984 |
| Biobank | rs1064792984 |
| 1000 genomes | rs1064792984 |
| hgdp | rs1064792984 |
| ensembl | rs1064792984 |
| geneview | rs1064792984 |
| scholar | rs1064792984 |
| rs1064792984 | |
| pharmgkb | rs1064792984 |
| gwascentral | rs1064792984 |
| openSNP | rs1064792984 |
| 23andMe | rs1064792984 |
| SNPshot | rs1064792984 |
| SNPdbe | rs1064792984 |
| MSV3d | rs1064792984 |
| GWAS Ctlg | rs1064792984 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1064792984(-;-) |
| Alt | rs1064792984(-;-) |
| Reference | Rs1064792984(CCCCAGCTCAGCAAGGTCAGCAGATC;CCCCAGCTCAGCAAGGTCAGCAGATC) |
| Significance | Probable-Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | SYNGAP1 |
| CLNDBN | Mental retardation, autosomal dominant 5 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.33409140_33409165del26 |
| CLNSRC | |
| CLNACC | RCV000476459.1, |
