rs200432447
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200432447(C;C) |
| Make rs200432447(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 28687974 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200432447 |
| dbSNP (classic) | rs200432447 |
| ClinGen | rs200432447 |
| ebi | rs200432447 |
| HLI | rs200432447 |
| Exac | rs200432447 |
| Gnomad | rs200432447 |
| Varsome | rs200432447 |
| LitVar | rs200432447 |
| Map | rs200432447 |
| PheGenI | rs200432447 |
| Biobank | rs200432447 |
| 1000 genomes | rs200432447 |
| hgdp | rs200432447 |
| ensembl | rs200432447 |
| geneview | rs200432447 |
| scholar | rs200432447 |
| rs200432447 | |
| pharmgkb | rs200432447 |
| gwascentral | rs200432447 |
| openSNP | rs200432447 |
| 23andMe | rs200432447 |
| SNPshot | rs200432447 |
| SNPdbe | rs200432447 |
| MSV3d | rs200432447 |
| GWAS Ctlg | rs200432447 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200432447(A;A) rs200432447(C;C) |
| Alt | rs200432447(A;A) rs200432447(C;C) |
| Reference | Rs200432447(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Familial cancer of breast |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to not provided Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000022.10:g.29083962G>A |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000116005.6, RCV000210124.1, RCV000212474.2, RCV000471222.1, |
