rs180177142
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Fanconi anemia, complementation group N |
| (-;G) | 3 | increased risk of breast cancer |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23638106 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177142 |
| dbSNP (classic) | rs180177142 |
| ClinGen | rs180177142 |
| ebi | rs180177142 |
| HLI | rs180177142 |
| Exac | rs180177142 |
| Gnomad | rs180177142 |
| Varsome | rs180177142 |
| LitVar | rs180177142 |
| Map | rs180177142 |
| PheGenI | rs180177142 |
| Biobank | rs180177142 |
| 1000 genomes | rs180177142 |
| hgdp | rs180177142 |
| ensembl | rs180177142 |
| geneview | rs180177142 |
| scholar | rs180177142 |
| rs180177142 | |
| pharmgkb | rs180177142 |
| gwascentral | rs180177142 |
| openSNP | rs180177142 |
| 23andMe | rs180177142 |
| SNPshot | rs180177142 |
| SNPdbe | rs180177142 |
| MSV3d | rs180177142 |
| GWAS Ctlg | rs180177142 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | Rs180177142(-;-) |
| Alt | Rs180177142(-;-) |
| Reference | Rs180177142(G;G) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23649427delC |
| CLNSRC | PALB2 database |
| CLNACC | RCV000114655.1, RCV000114656.1, RCV000164203.1, |
[PMID 21184274] PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.
