rs200928781
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs200928781(C;C) |
| Make rs200928781(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 28695800 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200928781 |
| dbSNP (classic) | rs200928781 |
| ClinGen | rs200928781 |
| ebi | rs200928781 |
| HLI | rs200928781 |
| Exac | rs200928781 |
| Gnomad | rs200928781 |
| Varsome | rs200928781 |
| LitVar | rs200928781 |
| Map | rs200928781 |
| PheGenI | rs200928781 |
| Biobank | rs200928781 |
| 1000 genomes | rs200928781 |
| hgdp | rs200928781 |
| ensembl | rs200928781 |
| geneview | rs200928781 |
| scholar | rs200928781 |
| rs200928781 | |
| pharmgkb | rs200928781 |
| gwascentral | rs200928781 |
| openSNP | rs200928781 |
| 23andMe | rs200928781 |
| SNPshot | rs200928781 |
| SNPdbe | rs200928781 |
| MSV3d | rs200928781 |
| GWAS Ctlg | rs200928781 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200928781(A;A) rs200928781(C;C) rs200928781(G;G) |
| Alt | rs200928781(A;A) rs200928781(C;C) rs200928781(G;G) |
| Reference | Rs200928781(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.29091788T>C; NC_000022.10:g.29091788T>G |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000475251.1, RCV000130486.4, RCV000206869.3, RCV000222009.1, |
