rs180177110
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | PALB2-related cancer risk |
| Make rs180177110(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23629897 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177110 |
| dbSNP (classic) | rs180177110 |
| ClinGen | rs180177110 |
| ebi | rs180177110 |
| HLI | rs180177110 |
| Exac | rs180177110 |
| Gnomad | rs180177110 |
| Varsome | rs180177110 |
| LitVar | rs180177110 |
| Map | rs180177110 |
| PheGenI | rs180177110 |
| Biobank | rs180177110 |
| 1000 genomes | rs180177110 |
| hgdp | rs180177110 |
| ensembl | rs180177110 |
| geneview | rs180177110 |
| scholar | rs180177110 |
| rs180177110 | |
| pharmgkb | rs180177110 |
| gwascentral | rs180177110 |
| openSNP | rs180177110 |
| 23andMe | rs180177110 |
| SNPshot | rs180177110 |
| SNPdbe | rs180177110 |
| MSV3d | rs180177110 |
| GWAS Ctlg | rs180177110 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs180177110(A;A) rs180177110(T;T) |
| Alt | rs180177110(A;A) rs180177110(T;T) |
| Reference | Rs180177110(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23641218G>A; NC_000016.9:g.23641218G>T |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000131502.3, RCV000236519.2, RCV000466579.1, RCV000221875.1, |
[PMID 19763884] A PALB2 germline mutation associated with hereditary breast cancer in Italy.
