rs199470484
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199470484(C;T) |
| Make rs199470484(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 75030213 |
| Gene | DUPD1, KAT6B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199470484 |
| dbSNP (classic) | rs199470484 |
| ClinGen | rs199470484 |
| ebi | rs199470484 |
| HLI | rs199470484 |
| Exac | rs199470484 |
| Gnomad | rs199470484 |
| Varsome | rs199470484 |
| LitVar | rs199470484 |
| Map | rs199470484 |
| PheGenI | rs199470484 |
| Biobank | rs199470484 |
| 1000 genomes | rs199470484 |
| hgdp | rs199470484 |
| ensembl | rs199470484 |
| geneview | rs199470484 |
| scholar | rs199470484 |
| rs199470484 | |
| pharmgkb | rs199470484 |
| gwascentral | rs199470484 |
| openSNP | rs199470484 |
| 23andMe | rs199470484 |
| SNPshot | rs199470484 |
| SNPdbe | rs199470484 |
| MSV3d | rs199470484 |
| GWAS Ctlg | rs199470484 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199470484(T;T) |
| Alt | rs199470484(T;T) |
| Reference | Rs199470484(C;C) |
| Significance | Pathogenic |
| Disease | Young Simpson syndrome not provided |
| Variation | info |
| Gene | KAT6B |
| CLNDBN | Young Simpson syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.76789971C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000043512.3, RCV000128660.1, |
[PMID 22077973
] Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
