rs34289250
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34289250(C;C) |
| Make rs34289250(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61803285 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34289250 |
| dbSNP (classic) | rs34289250 |
| ClinGen | rs34289250 |
| ebi | rs34289250 |
| HLI | rs34289250 |
| Exac | rs34289250 |
| Gnomad | rs34289250 |
| Varsome | rs34289250 |
| LitVar | rs34289250 |
| Map | rs34289250 |
| PheGenI | rs34289250 |
| Biobank | rs34289250 |
| 1000 genomes | rs34289250 |
| hgdp | rs34289250 |
| ensembl | rs34289250 |
| geneview | rs34289250 |
| scholar | rs34289250 |
| rs34289250 | |
| pharmgkb | rs34289250 |
| gwascentral | rs34289250 |
| openSNP | rs34289250 |
| 23andMe | rs34289250 |
| SNPshot | rs34289250 |
| SNPdbe | rs34289250 |
| MSV3d | rs34289250 |
| GWAS Ctlg | rs34289250 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
This SNP is often associated with ovarian cancer in Icelandic women, according to DeCode, however it appears to only due to linkage disequilibrium, the causitive mutation is a more rare indel which does not (yet) have an rs# assigned.
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
| GWAS snp | |
|---|---|
| PMID | [PMID 21964575] |
| Trait | Ovarian cancer |
| Title | Mutations in BRIP1 confer high risk of ovarian cancer. |
| Risk Allele | C |
| P-val | 6E-13 |
| Odds Ratio | 7.95 [NR] |
