rs28989186
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28989186(C;T) |
| Make rs28989186(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 40176672 |
| Gene | BUB1B, LOC107984763 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28989186 |
| dbSNP (classic) | rs28989186 |
| ClinGen | rs28989186 |
| ebi | rs28989186 |
| HLI | rs28989186 |
| Exac | rs28989186 |
| Gnomad | rs28989186 |
| Varsome | rs28989186 |
| LitVar | rs28989186 |
| Map | rs28989186 |
| PheGenI | rs28989186 |
| Biobank | rs28989186 |
| 1000 genomes | rs28989186 |
| hgdp | rs28989186 |
| ensembl | rs28989186 |
| geneview | rs28989186 |
| scholar | rs28989186 |
| rs28989186 | |
| pharmgkb | rs28989186 |
| gwascentral | rs28989186 |
| openSNP | rs28989186 |
| 23andMe | rs28989186 |
| SNPshot | rs28989186 |
| SNPdbe | rs28989186 |
| MSV3d | rs28989186 |
| GWAS Ctlg | rs28989186 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28989186(T;T) |
| Alt | rs28989186(T;T) |
| Reference | Rs28989186(C;C) |
| Significance | Other |
| Disease | Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
| Variation | info |
| Gene | BUB1B |
| CLNDBN | Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
| Reversed | 0 |
| HGVS | NC_000015.9:g.40468873C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007152.5, RCV000007153.5, |
[PMID 18852891
] Distribution and effects of nonsense polymorphisms in human genes.
