rs515726099
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | significantly increased risk of breast cancer |
| (C;T) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23623131 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726099 |
| dbSNP (classic) | rs515726099 |
| ClinGen | rs515726099 |
| ebi | rs515726099 |
| HLI | rs515726099 |
| Exac | rs515726099 |
| Gnomad | rs515726099 |
| Varsome | rs515726099 |
| LitVar | rs515726099 |
| Map | rs515726099 |
| PheGenI | rs515726099 |
| Biobank | rs515726099 |
| 1000 genomes | rs515726099 |
| hgdp | rs515726099 |
| ensembl | rs515726099 |
| geneview | rs515726099 |
| scholar | rs515726099 |
| rs515726099 | |
| pharmgkb | rs515726099 |
| gwascentral | rs515726099 |
| openSNP | rs515726099 |
| 23andMe | rs515726099 |
| SNPshot | rs515726099 |
| SNPdbe | rs515726099 |
| MSV3d | rs515726099 |
| GWAS Ctlg | rs515726099 |
| Max Magnitude | 3 |
[PMID 25099575
] Breast-Cancer Risk in Families with Mutations in PALB2
| ClinVar | |
|---|---|
| Risk | Rs515726099(C;C) rs515726099(T;T) |
| Alt | Rs515726099(C;C) rs515726099(T;T) |
| Reference | Rs515726099(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23634452C>G; NC_000016.9:g.23634452C>T |
| CLNSRC | PALB2 database |
| CLNACC | RCV000114567.4, RCV000220116.1, RCV000168057.1, RCV000255033.1, RCV000454148.1, |
