rs515726123
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Fanconi anemia, complementation group N |
| (-;CT) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
| (-;TC) | 5 | PALB2-related cancer risk |
| (CT;CT) | 0 | common/normal |
| (TC;TC) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23636037 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726123 |
| dbSNP (classic) | rs515726123 |
| ClinGen | rs515726123 |
| ebi | rs515726123 |
| HLI | rs515726123 |
| Exac | rs515726123 |
| Gnomad | rs515726123 |
| Varsome | rs515726123 |
| LitVar | rs515726123 |
| Map | rs515726123 |
| PheGenI | rs515726123 |
| Biobank | rs515726123 |
| 1000 genomes | rs515726123 |
| hgdp | rs515726123 |
| ensembl | rs515726123 |
| geneview | rs515726123 |
| scholar | rs515726123 |
| rs515726123 | |
| pharmgkb | rs515726123 |
| gwascentral | rs515726123 |
| openSNP | rs515726123 |
| 23andMe | rs515726123 |
| SNPshot | rs515726123 |
| SNPdbe | rs515726123 |
| MSV3d | rs515726123 |
| GWAS Ctlg | rs515726123 |
| Merged from | Rs515726124 |
| Max Magnitude | 7 |
[PMID 25099575
] Breast-Cancer Risk in Families with Mutations in PALB2
see also ClinVar (where clinical significance = pathogenic)
| ClinVar | |
|---|---|
| Risk | Rs515726123(-;-) Rs515726123(TC;TC) |
| Alt | Rs515726123(-;-) Rs515726123(TC;TC) |
| Reference | Rs515726123(CT;CT) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders |
| Reversed | 0 |
| HGVS | NC_000016.9:g.23647357_23647358delTC |
| CLNSRC | PALB2 database |
| CLNACC | RCV000114645.6, RCV000114646.1, RCV000130658.7, RCV000212776.2, RCV000363454.1, |
