rs111367604
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111367604(C;G) |
| Make rs111367604(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 214728927 |
| Gene | BARD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111367604 |
| dbSNP (classic) | rs111367604 |
| ClinGen | rs111367604 |
| ebi | rs111367604 |
| HLI | rs111367604 |
| Exac | rs111367604 |
| Gnomad | rs111367604 |
| Varsome | rs111367604 |
| LitVar | rs111367604 |
| Map | rs111367604 |
| PheGenI | rs111367604 |
| Biobank | rs111367604 |
| 1000 genomes | rs111367604 |
| hgdp | rs111367604 |
| ensembl | rs111367604 |
| geneview | rs111367604 |
| scholar | rs111367604 |
| rs111367604 | |
| pharmgkb | rs111367604 |
| gwascentral | rs111367604 |
| openSNP | rs111367604 |
| 23andMe | rs111367604 |
| SNPshot | rs111367604 |
| SNPdbe | rs111367604 |
| MSV3d | rs111367604 |
| GWAS Ctlg | rs111367604 |
| 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 | rs111367604(A;A) rs111367604(G;G) rs111367604(T;T) |
| Alt | rs111367604(A;A) rs111367604(G;G) rs111367604(T;T) |
| Reference | Rs111367604(C;C) |
| Significance | Unknown |
| Disease | not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Variation | info |
| Gene | BARD1 |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000002.11:g.215593651C>A; NC_000002.11:g.215593651C>T |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000482358.1, RCV000130659.3, RCV000474704.1, RCV000484351.1, |
