rs7213430
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7213430(A;A) |
| Make rs7213430(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61682813 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7213430 |
| dbSNP (classic) | rs7213430 |
| ClinGen | rs7213430 |
| ebi | rs7213430 |
| HLI | rs7213430 |
| Exac | rs7213430 |
| Gnomad | rs7213430 |
| Varsome | rs7213430 |
| LitVar | rs7213430 |
| Map | rs7213430 |
| PheGenI | rs7213430 |
| Biobank | rs7213430 |
| 1000 genomes | rs7213430 |
| hgdp | rs7213430 |
| ensembl | rs7213430 |
| geneview | rs7213430 |
| scholar | rs7213430 |
| rs7213430 | |
| pharmgkb | rs7213430 |
| gwascentral | rs7213430 |
| openSNP | rs7213430 |
| 23andMe | rs7213430 |
| SNPshot | rs7213430 |
| SNPdbe | rs7213430 |
| MSV3d | rs7213430 |
| GWAS Ctlg | rs7213430 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
[PMID 26711789
] A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck.
| ClinVar | |
|---|---|
| Risk | rs7213430(A;A) |
| Alt | rs7213430(A;A) |
| Reference | Rs7213430(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Neoplasm of breast Fanconi anemia |
| Variation | info |
| Gene | BRIP1 |
| CLNDBN | Neoplasm of breast Fanconi anemia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.59760174G>A |
| CLNSRC | |
| CLNACC | RCV000289915.1, RCV000347253.1, |
