rs17489363
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs17489363(A;G) |
| Make rs17489363(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 214809617 |
| Gene | BARD1, LOC101928103 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17489363 |
| dbSNP (classic) | rs17489363 |
| ClinGen | rs17489363 |
| ebi | rs17489363 |
| HLI | rs17489363 |
| Exac | rs17489363 |
| Gnomad | rs17489363 |
| Varsome | rs17489363 |
| LitVar | rs17489363 |
| Map | rs17489363 |
| PheGenI | rs17489363 |
| Biobank | rs17489363 |
| 1000 genomes | rs17489363 |
| hgdp | rs17489363 |
| ensembl | rs17489363 |
| geneview | rs17489363 |
| scholar | rs17489363 |
| rs17489363 | |
| pharmgkb | rs17489363 |
| gwascentral | rs17489363 |
| openSNP | rs17489363 |
| 23andMe | rs17489363 |
| SNPshot | rs17489363 |
| SNPdbe | rs17489363 |
| MSV3d | rs17489363 |
| GWAS Ctlg | rs17489363 |
| GMAF | 0.2268 |
| Max Magnitude | 0 |
[PMID 23056176
] Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database
| ClinVar | |
|---|---|
| Risk | rs17489363(G;G) |
| Alt | rs17489363(G;G) |
| Reference | Rs17489363(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Neoplasm of breast |
| Variation | info |
| Gene | LOC101928103 BARD1 |
| CLNDBN | Neoplasm of breast |
| Reversed | 0 |
| HGVS | NC_000002.11:g.215674341A>G |
| CLNSRC | |
| CLNACC | RCV000374186.1, |
[PMID 30132831] Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.
[PMID 31258718] Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population.
