rs180177121
From SNPedia
| Merged into | rs515726091 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| (-;T) | 3 | increased risk of breast cancer |
| (T;T) | 7 | Fanconi anemia, complementation group N |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23626297 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177121 |
| dbSNP (classic) | rs180177121 |
| ClinGen | rs180177121 |
| ebi | rs180177121 |
| HLI | rs180177121 |
| Exac | rs180177121 |
| Gnomad | rs180177121 |
| Varsome | rs180177121 |
| LitVar | rs180177121 |
| Map | rs180177121 |
| PheGenI | rs180177121 |
| Biobank | rs180177121 |
| 1000 genomes | rs180177121 |
| hgdp | rs180177121 |
| ensembl | rs180177121 |
| geneview | rs180177121 |
| scholar | rs180177121 |
| rs180177121 | |
| pharmgkb | rs180177121 |
| gwascentral | rs180177121 |
| openSNP | rs180177121 |
| 23andMe | rs180177121 |
| SNPshot | rs180177121 |
| SNPdbe | rs180177121 |
| MSV3d | rs180177121 |
| GWAS Ctlg | rs180177121 |
| Status | Merged into rs515726091 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | Rs180177121(T;T) |
| Alt | Rs180177121(T;T) |
| Reference | Rs180177121(;) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23637618_23637619insA |
| CLNSRC | |
| CLNACC | |
[PMID 21285249
] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
