| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (A;G)
|
1.1
|
very slightly increased breast cancer risk
|
| (G;G)
|
2
|
very slightly increased risk for breast cancer
|
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.
For this particular SNP, the risk (minor) allele is (G).
| ClinVar
|
| Risk
|
Rs1799966(G;G) rs1799966(T;T) |
| Alt
|
Rs1799966(G;G) rs1799966(T;T) |
| Reference
|
Rs1799966(A;A) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41223094T>A; NC_000017.10:g.41223094T>C |
| CLNSRC |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein) |
| CLNACC |
RCV000031194.5, RCV000048673.5, RCV000130704.3, RCV000167795.3, RCV000034753.3, RCV000048672.6, RCV000112410.5, RCV000119096.4, RCV000120260.6, RCV000128996.3, |
[PMID 18559551
] Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.
[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.
] Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.
