rs398122685
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs398122685(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43082407 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122685 |
| dbSNP (classic) | rs398122685 |
| ClinGen | rs398122685 |
| ebi | rs398122685 |
| HLI | rs398122685 |
| Exac | rs398122685 |
| Gnomad | rs398122685 |
| Varsome | rs398122685 |
| LitVar | rs398122685 |
| Map | rs398122685 |
| PheGenI | rs398122685 |
| Biobank | rs398122685 |
| 1000 genomes | rs398122685 |
| hgdp | rs398122685 |
| ensembl | rs398122685 |
| geneview | rs398122685 |
| scholar | rs398122685 |
| rs398122685 | |
| pharmgkb | rs398122685 |
| gwascentral | rs398122685 |
| openSNP | rs398122685 |
| 23andMe | rs398122685 |
| SNPshot | rs398122685 |
| SNPdbe | rs398122685 |
| MSV3d | rs398122685 |
| GWAS Ctlg | rs398122685 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs398122685(T;T) |
| Alt | rs398122685(T;T) |
| Reference | Rs398122685(A;A) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer not provided |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41234424T>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000077145.4, RCV000159991.2, |
