rs4988344
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4988344(C;G) |
| Make rs4988344(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61847251 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4988344 |
| dbSNP (classic) | rs4988344 |
| ClinGen | rs4988344 |
| ebi | rs4988344 |
| HLI | rs4988344 |
| Exac | rs4988344 |
| Gnomad | rs4988344 |
| Varsome | rs4988344 |
| LitVar | rs4988344 |
| Map | rs4988344 |
| PheGenI | rs4988344 |
| Biobank | rs4988344 |
| 1000 genomes | rs4988344 |
| hgdp | rs4988344 |
| ensembl | rs4988344 |
| geneview | rs4988344 |
| scholar | rs4988344 |
| rs4988344 | |
| pharmgkb | rs4988344 |
| gwascentral | rs4988344 |
| openSNP | rs4988344 |
| 23andMe | rs4988344 |
| SNPshot | rs4988344 |
| SNPdbe | rs4988344 |
| MSV3d | rs4988344 |
| GWAS Ctlg | rs4988344 |
| GMAF | 0.2502 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer
[PMID 17342202
] Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian 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 | rs4988344(G;G) |
| Alt | rs4988344(G;G) |
| Reference | Rs4988344(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | BRIP1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000017.10:g.59924612G>C |
| CLNSRC | |
| CLNACC | RCV000246632.1, |
