|(C;C)||0||common in clinvar|
|(C;T)||0||very likely to be a benign BRCA1 variant|
[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
|Risk||rs799917(A;A) rs799917(G;G) rs799917(T;T)|
|Alt||rs799917(A;A) rs799917(G;G) rs799917(T;T)|
|Disease||not provided Breast-ovarian cancer Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome|
|CLNDBN||not provided Breast-ovarian cancer, familial 1 Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome|
|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.