rs799917
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 0 | very likely to be a benign BRCA1 variant |
| Make rs799917(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43092919 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs799917 |
| dbSNP (classic) | rs799917 |
| ClinGen | rs799917 |
| ebi | rs799917 |
| HLI | rs799917 |
| Exac | rs799917 |
| Gnomad | rs799917 |
| Varsome | rs799917 |
| LitVar | rs799917 |
| Map | rs799917 |
| PheGenI | rs799917 |
| Biobank | rs799917 |
| 1000 genomes | rs799917 |
| hgdp | rs799917 |
| ensembl | rs799917 |
| geneview | rs799917 |
| scholar | rs799917 |
| rs799917 | |
| pharmgkb | rs799917 |
| gwascentral | rs799917 |
| openSNP | rs799917 |
| 23andMe | rs799917 |
| SNPshot | rs799917 |
| SNPdbe | rs799917 |
| MSV3d | rs799917 |
| GWAS Ctlg | rs799917 |
| GMAF | 0.483 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20332227
] Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility
[PMID 19672706] Polymorphisms in the BRCA1 and ABCB1 genes modulate menopausal hormone therapy associated breast cancer risk in postmenopausal women
| ClinVar | |
|---|---|
| Risk | rs799917(A;A) rs799917(G;G) rs799917(T;T) |
| Alt | rs799917(A;A) rs799917(G;G) rs799917(T;T) |
| Reference | Rs799917(C;C) |
| Significance | Other |
| Disease | not provided Breast-ovarian cancer Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | not provided Breast-ovarian cancer, familial 1 Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244936G>A; NC_000017.10:g.41244936G>C; NC_000017.10:g.41244936G>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein) |
| CLNACC | RCV000034735.3, RCV000111903.5, RCV000114986.3, RCV000120285.6, RCV000132149.4, RCV000261383.1, RCV000077111.2, RCV000221093.1, RCV000442717.1, RCV000463451.1, RCV000047899.2, RCV000111902.1, |
[PMID 15743496] Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.
[PMID 16111488] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
[PMID 18559551] Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.
[PMID 18937358] Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.
[PMID 19484476] Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women.
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
[PMID 20003265] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
[PMID 23964347] Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study
[PMID 23619945] Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
[PMID 23749772] A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma.
[PMID 27221928] The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women.
[PMID 30820179] Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
[PMID 32606887] The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.
