rs398122553
From SNPedia
| Merged into | rs80359575 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (AG;AG) | 0 | common in clinvar |
| (GA;GA) | 0 | common in clinvar |
| Make rs398122553(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32329446 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122553 |
| dbSNP (classic) | rs398122553 |
| ClinGen | rs398122553 |
| ebi | rs398122553 |
| HLI | rs398122553 |
| Exac | rs398122553 |
| Gnomad | rs398122553 |
| Varsome | rs398122553 |
| LitVar | rs398122553 |
| Map | rs398122553 |
| PheGenI | rs398122553 |
| Biobank | rs398122553 |
| 1000 genomes | rs398122553 |
| hgdp | rs398122553 |
| ensembl | rs398122553 |
| geneview | rs398122553 |
| scholar | rs398122553 |
| rs398122553 | |
| pharmgkb | rs398122553 |
| gwascentral | rs398122553 |
| openSNP | rs398122553 |
| 23andMe | rs398122553 |
| SNPshot | rs398122553 |
| SNPdbe | rs398122553 |
| MSV3d | rs398122553 |
| GWAS Ctlg | rs398122553 |
| Status | Merged into rs80359575 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs398122553(AG;AG) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32903583_32903584delGA |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000044920.2, RCV000076962.5, |
