rs180177133
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Fanconi anemia, complementation group N |
| (-;A) | 3 | increased risk of breast cancer |
| (A;A) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23614089 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177133 |
| dbSNP (classic) | rs180177133 |
| ClinGen | rs180177133 |
| ebi | rs180177133 |
| HLI | rs180177133 |
| Exac | rs180177133 |
| Gnomad | rs180177133 |
| Varsome | rs180177133 |
| LitVar | rs180177133 |
| Map | rs180177133 |
| PheGenI | rs180177133 |
| Biobank | rs180177133 |
| 1000 genomes | rs180177133 |
| hgdp | rs180177133 |
| ensembl | rs180177133 |
| geneview | rs180177133 |
| scholar | rs180177133 |
| rs180177133 | |
| pharmgkb | rs180177133 |
| gwascentral | rs180177133 |
| openSNP | rs180177133 |
| 23andMe | rs180177133 |
| SNPshot | rs180177133 |
| SNPdbe | rs180177133 |
| MSV3d | rs180177133 |
| GWAS Ctlg | rs180177133 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | Rs180177133(-;-) |
| Alt | Rs180177133(-;-) |
| Reference | Rs180177133(A;A) |
| Significance | Other |
| Disease | Breast cancer Familial cancer of breast Fanconi anemia Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Breast cancer, susceptibility to Familial cancer of breast Fanconi anemia, complementation group N Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23625410delT |
| CLNSRC | OMIM Allelic Variant PALB2 database |
| CLNACC | RCV000001309.2, RCV000114595.4, RCV000114596.2, RCV000114597.3, RCV000131150.4, RCV000235691.2, |
[PMID 17200668
] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
[PMID 18302019] Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
