rs4986763
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs4986763(C;C) |
| Make rs4986763(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61683635 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986763 |
| dbSNP (classic) | rs4986763 |
| ClinGen | rs4986763 |
| ebi | rs4986763 |
| HLI | rs4986763 |
| Exac | rs4986763 |
| Gnomad | rs4986763 |
| Varsome | rs4986763 |
| LitVar | rs4986763 |
| Map | rs4986763 |
| PheGenI | rs4986763 |
| Biobank | rs4986763 |
| 1000 genomes | rs4986763 |
| hgdp | rs4986763 |
| ensembl | rs4986763 |
| geneview | rs4986763 |
| scholar | rs4986763 |
| rs4986763 | |
| pharmgkb | rs4986763 |
| gwascentral | rs4986763 |
| openSNP | rs4986763 |
| 23andMe | rs4986763 |
| SNPshot | rs4986763 |
| SNPdbe | rs4986763 |
| MSV3d | rs4986763 |
| GWAS Ctlg | rs4986763 |
| GMAF | 0.332 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer
[PMID 19276285
] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
| ClinVar | |
|---|---|
| Risk | rs4986763(C;C) |
| Alt | rs4986763(C;C) |
| Reference | Rs4986763(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia Neoplasm of ovary |
| Variation | info |
| Gene | BRIP1 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia, complementation group J Neoplasm of ovary |
| Reversed | 1 |
| HGVS | NC_000017.10:g.59760996A>G |
| CLNSRC | |
| CLNACC | RCV000162378.1, RCV000251677.1, RCV000283962.1, RCV000341269.1, RCV000410144.1, RCV000411217.1, |
