rs141568342
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs141568342(C;T) |
| Make rs141568342(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 28734532 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141568342 |
| dbSNP (classic) | rs141568342 |
| ClinGen | rs141568342 |
| ebi | rs141568342 |
| HLI | rs141568342 |
| Exac | rs141568342 |
| Gnomad | rs141568342 |
| Varsome | rs141568342 |
| LitVar | rs141568342 |
| Map | rs141568342 |
| PheGenI | rs141568342 |
| Biobank | rs141568342 |
| 1000 genomes | rs141568342 |
| hgdp | rs141568342 |
| ensembl | rs141568342 |
| geneview | rs141568342 |
| scholar | rs141568342 |
| rs141568342 | |
| pharmgkb | rs141568342 |
| gwascentral | rs141568342 |
| openSNP | rs141568342 |
| 23andMe | rs141568342 |
| SNPshot | rs141568342 |
| SNPdbe | rs141568342 |
| MSV3d | rs141568342 |
| GWAS Ctlg | rs141568342 |
| Max Magnitude | 0 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312
]
| ClinVar | |
|---|---|
| Risk | rs141568342(T;T) |
| Alt | rs141568342(T;T) |
| Reference | Rs141568342(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer not provided |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.29130520C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116009.8, RCV000199067.3, RCV000210191.1, RCV000212407.2, |
