rs121908701
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs121908701(A;A) |
| Make rs121908701(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 28725027 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908701 |
| dbSNP (classic) | rs121908701 |
| ClinGen | rs121908701 |
| ebi | rs121908701 |
| HLI | rs121908701 |
| Exac | rs121908701 |
| Gnomad | rs121908701 |
| Varsome | rs121908701 |
| LitVar | rs121908701 |
| Map | rs121908701 |
| PheGenI | rs121908701 |
| Biobank | rs121908701 |
| 1000 genomes | rs121908701 |
| hgdp | rs121908701 |
| ensembl | rs121908701 |
| geneview | rs121908701 |
| scholar | rs121908701 |
| rs121908701 | |
| pharmgkb | rs121908701 |
| gwascentral | rs121908701 |
| openSNP | rs121908701 |
| 23andMe | rs121908701 |
| SNPshot | rs121908701 |
| SNPdbe | rs121908701 |
| MSV3d | rs121908701 |
| GWAS Ctlg | rs121908701 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908701(A;A) |
| Alt | rs121908701(A;A) |
| Reference | Rs121908701(G;G) |
| Significance | Pathogenic |
| Disease | Prostate cancer not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Prostate cancer, somatic not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000022.10:g.29121015C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005946.5, RCV000114761.1, RCV000129670.5, RCV000212428.1, RCV000233960.2, |
[PMID 12533788
] Mutations in CHEK2 associated with prostate cancer risk.
[PMID 15095295] Limited relevance of the CHEK2 gene in hereditary breast cancer.
