rs4986764
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs4986764(C;C) |
| Make rs4986764(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 61685986 |
| Gene | BRIP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986764 |
| dbSNP (classic) | rs4986764 |
| ClinGen | rs4986764 |
| ebi | rs4986764 |
| HLI | rs4986764 |
| Exac | rs4986764 |
| Gnomad | rs4986764 |
| Varsome | rs4986764 |
| LitVar | rs4986764 |
| Map | rs4986764 |
| PheGenI | rs4986764 |
| Biobank | rs4986764 |
| 1000 genomes | rs4986764 |
| hgdp | rs4986764 |
| ensembl | rs4986764 |
| geneview | rs4986764 |
| scholar | rs4986764 |
| rs4986764 | |
| pharmgkb | rs4986764 |
| gwascentral | rs4986764 |
| openSNP | rs4986764 |
| 23andMe | rs4986764 |
| SNPshot | rs4986764 |
| SNPdbe | rs4986764 |
| MSV3d | rs4986764 |
| GWAS Ctlg | rs4986764 |
| GMAF | 0.3269 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 15113441
] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
[PMID 19127258] A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
[PMID 19138047] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
| ClinVar | |
|---|---|
| Risk | rs4986764(C;C) |
| Alt | rs4986764(C;C) |
| Reference | Rs4986764(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Neoplasm of ovary Fanconi anemia |
| Variation | info |
| Gene | BRIP1 |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Neoplasm of ovary Fanconi anemia, complementation group J |
| Reversed | 1 |
| HGVS | NC_000017.10:g.59763347A>G |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000120400.2, RCV000132148.3, RCV000286073.1, RCV000377937.1, RCV000410195.1, RCV000412161.1, |
