rs531398630
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs531398630(A;A) |
| Make rs531398630(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 28695858 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs531398630 |
| dbSNP (classic) | rs531398630 |
| ClinGen | rs531398630 |
| ebi | rs531398630 |
| HLI | rs531398630 |
| Exac | rs531398630 |
| Gnomad | rs531398630 |
| Varsome | rs531398630 |
| LitVar | rs531398630 |
| Map | rs531398630 |
| PheGenI | rs531398630 |
| Biobank | rs531398630 |
| 1000 genomes | rs531398630 |
| hgdp | rs531398630 |
| ensembl | rs531398630 |
| geneview | rs531398630 |
| scholar | rs531398630 |
| rs531398630 | |
| pharmgkb | rs531398630 |
| gwascentral | rs531398630 |
| openSNP | rs531398630 |
| 23andMe | rs531398630 |
| SNPshot | rs531398630 |
| SNPdbe | rs531398630 |
| MSV3d | rs531398630 |
| GWAS Ctlg | rs531398630 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs531398630(A;A) |
| Alt | rs531398630(A;A) |
| Reference | Rs531398630(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.29091846G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000115982.7, RCV000197709.3, RCV000212449.2, |
