rs180177122
From SNPedia
					| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (A;A) | 7 | Fanconi anemia, complementation group N | 
| (A;G) | 5 | PALB2-related cancer risk | 
| (G;G) | 0 | common in clinvar | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 16 | 
| Position | 23626266 | 
| Gene | PALB2 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs180177122 | 
| dbSNP (classic) | rs180177122 | 
| ClinGen | rs180177122 | 
| ebi | rs180177122 | 
| HLI | rs180177122 | 
| Exac | rs180177122 | 
| Gnomad | rs180177122 | 
| Varsome | rs180177122 | 
| LitVar | rs180177122 | 
| Map | rs180177122 | 
| PheGenI | rs180177122 | 
| Biobank | rs180177122 | 
| 1000 genomes | rs180177122 | 
| hgdp | rs180177122 | 
| ensembl | rs180177122 | 
| geneview | rs180177122 | 
| scholar | rs180177122 | 
| rs180177122 | |
| pharmgkb | rs180177122 | 
| gwascentral | rs180177122 | 
| openSNP | rs180177122 | 
| 23andMe | rs180177122 | 
| SNPshot | rs180177122 | 
| SNPdbe | rs180177122 | 
| MSV3d | rs180177122 | 
| GWAS Ctlg | rs180177122 | 
| Max Magnitude | 7 | 
| ClinVar | |
|---|---|
| Risk | Rs180177122(A;A) | 
| Alt | Rs180177122(A;A) | 
| Reference | Rs180177122(G;G) | 
| Significance | Pathogenic | 
| Disease | Familial cancer of breast not provided | 
| Variation | info | 
| Gene | PALB2 | 
| CLNDBN | Familial cancer of breast not provided | 
| Reversed | 1 | 
| HGVS | NC_000016.9:g.23637587C>T | 
| CLNSRC | PALB2 database | 
| CLNACC | RCV000114552.1, RCV000255170.1, | 
[PMID 21285249
] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
