rs863224883
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AA;AA) | 0 | common in clinvar |
| Make rs863224883(-;-) |
| Make rs863224883(-;AA) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 75028786 |
| Gene | DUPD1, KAT6B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224883 |
| dbSNP (classic) | rs863224883 |
| ClinGen | rs863224883 |
| ebi | rs863224883 |
| HLI | rs863224883 |
| Exac | rs863224883 |
| Gnomad | rs863224883 |
| Varsome | rs863224883 |
| LitVar | rs863224883 |
| Map | rs863224883 |
| PheGenI | rs863224883 |
| Biobank | rs863224883 |
| 1000 genomes | rs863224883 |
| hgdp | rs863224883 |
| ensembl | rs863224883 |
| geneview | rs863224883 |
| scholar | rs863224883 |
| rs863224883 | |
| pharmgkb | rs863224883 |
| gwascentral | rs863224883 |
| openSNP | rs863224883 |
| 23andMe | rs863224883 |
| SNPshot | rs863224883 |
| SNPdbe | rs863224883 |
| MSV3d | rs863224883 |
| GWAS Ctlg | rs863224883 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863224883(-;-) |
| Alt | rs863224883(-;-) |
| Reference | Rs863224883(AA;AA) |
| Significance | Probable-Pathogenic |
| Disease | Young Simpson syndrome |
| Variation | info |
| Gene | KAT6B |
| CLNDBN | Young Simpson syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.76788544_76788545delAA |
| CLNSRC | |
| CLNACC | RCV000195677.1, |
