rs1799950
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal breast cancer risk |
| (A;G) | 1.5 | very slightly increased breast cancer risk |
| (G;G) | 2 | very slightly increased breast cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43094464 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799950 |
| dbSNP (classic) | rs1799950 |
| ClinGen | rs1799950 |
| ebi | rs1799950 |
| HLI | rs1799950 |
| Exac | rs1799950 |
| Gnomad | rs1799950 |
| Varsome | rs1799950 |
| LitVar | rs1799950 |
| Map | rs1799950 |
| PheGenI | rs1799950 |
| Biobank | rs1799950 |
| 1000 genomes | rs1799950 |
| hgdp | rs1799950 |
| ensembl | rs1799950 |
| geneview | rs1799950 |
| scholar | rs1799950 |
| rs1799950 | |
| pharmgkb | rs1799950 |
| gwascentral | rs1799950 |
| openSNP | rs1799950 |
| 23andMe | rs1799950 |
| SNPshot | rs1799950 |
| SNPdbe | rs1799950 |
| MSV3d | rs1799950 |
| GWAS Ctlg | rs1799950 |
| GMAF | 0.02801 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
This particular SNP, rs1799950, was actually the only SNP of the 25 to have an increased odds ratio for breast cancer to be over 1.5 in carriers and to also be present at a minor allele frequency of over 5%. The odds ratio calculated was 1.72 (P = 0.0002). The risk (minor) allele is (G).
The orientation has been changed to minus manually. We'll see what the bots do to it, with the next major update.
[PMID 22144497
] Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection
| ClinVar | |
|---|---|
| Risk | Rs1799950(G;G) |
| Alt | Rs1799950(G;G) |
| Reference | Rs1799950(A;A) |
| Significance | Other |
| Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41246481T>C |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein) |
| CLNACC | RCV000034725.3, RCV000047326.7, RCV000111539.7, RCV000120281.7, RCV000132455.4, RCV000207264.1, RCV000462965.1, |
[PMID 15743496] Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.
[PMID 17428325] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
[PMID 18701471] Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.
[PMID 20039378] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
