rs180177083
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | increased risk of breast cancer |
| (T;T) | 7 | Fanconi anemia, complementation group N |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23637865 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177083 |
| dbSNP (classic) | rs180177083 |
| ClinGen | rs180177083 |
| ebi | rs180177083 |
| HLI | rs180177083 |
| Exac | rs180177083 |
| Gnomad | rs180177083 |
| Varsome | rs180177083 |
| LitVar | rs180177083 |
| Map | rs180177083 |
| PheGenI | rs180177083 |
| Biobank | rs180177083 |
| 1000 genomes | rs180177083 |
| hgdp | rs180177083 |
| ensembl | rs180177083 |
| geneview | rs180177083 |
| scholar | rs180177083 |
| rs180177083 | |
| pharmgkb | rs180177083 |
| gwascentral | rs180177083 |
| openSNP | rs180177083 |
| 23andMe | rs180177083 |
| SNPshot | rs180177083 |
| SNPdbe | rs180177083 |
| MSV3d | rs180177083 |
| GWAS Ctlg | rs180177083 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs180177083(A;A) Rs180177083(T;T) |
| Alt | rs180177083(A;A) Rs180177083(T;T) |
| Reference | Rs180177083(C;C) |
| Significance | Other |
| 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.23649186G>A |
| CLNSRC | PALB2 database |
| CLNACC | RCV000114503.6, RCV000163078.2, RCV000235795.2, |
[PMID 21285249
] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
[PMID 21409391] BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
