rs371418985
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs371418985(C;T) |
| Make rs371418985(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 28695737 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371418985 |
| dbSNP (classic) | rs371418985 |
| ClinGen | rs371418985 |
| ebi | rs371418985 |
| HLI | rs371418985 |
| Exac | rs371418985 |
| Gnomad | rs371418985 |
| Varsome | rs371418985 |
| LitVar | rs371418985 |
| Map | rs371418985 |
| PheGenI | rs371418985 |
| Biobank | rs371418985 |
| 1000 genomes | rs371418985 |
| hgdp | rs371418985 |
| ensembl | rs371418985 |
| geneview | rs371418985 |
| scholar | rs371418985 |
| rs371418985 | |
| pharmgkb | rs371418985 |
| gwascentral | rs371418985 |
| openSNP | rs371418985 |
| 23andMe | rs371418985 |
| SNPshot | rs371418985 |
| SNPdbe | rs371418985 |
| MSV3d | rs371418985 |
| GWAS Ctlg | rs371418985 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371418985(T;T) |
| Alt | rs371418985(T;T) |
| Reference | Rs371418985(C;C) |
| Significance | Pathogenic |
| Disease | not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000022.10:g.29091725C>T |
| CLNSRC | |
| CLNACC | RCV000220219.2, RCV000448496.2, RCV000465371.1, |
