rs2229571
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2229571(C;C) |
| Make rs2229571(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 214780740 |
| Gene | BARD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229571 |
| dbSNP (classic) | rs2229571 |
| ClinGen | rs2229571 |
| ebi | rs2229571 |
| HLI | rs2229571 |
| Exac | rs2229571 |
| Gnomad | rs2229571 |
| Varsome | rs2229571 |
| LitVar | rs2229571 |
| Map | rs2229571 |
| PheGenI | rs2229571 |
| Biobank | rs2229571 |
| 1000 genomes | rs2229571 |
| hgdp | rs2229571 |
| ensembl | rs2229571 |
| geneview | rs2229571 |
| scholar | rs2229571 |
| rs2229571 | |
| pharmgkb | rs2229571 |
| gwascentral | rs2229571 |
| openSNP | rs2229571 |
| 23andMe | rs2229571 |
| SNPshot | rs2229571 |
| SNPdbe | rs2229571 |
| MSV3d | rs2229571 |
| GWAS Ctlg | rs2229571 |
| GMAF | 0.4876 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19412175
] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.
| ClinVar | |
|---|---|
| Risk | rs2229571(C;C) |
| Alt | rs2229571(C;C) |
| Reference | Rs2229571(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Neoplasm of breast |
| Variation | info |
| Gene | BARD1 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Neoplasm of breast |
| Reversed | 1 |
| HGVS | NC_000002.11:g.215645464C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000132162.3, RCV000248120.1, RCV000390287.1, |
[PMID 31258718] Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population.
