rs4986850
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | |
| (G;G) | 0 | common in complete genomics |
| Make rs4986850(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43093454 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986850 |
| dbSNP (classic) | rs4986850 |
| ClinGen | rs4986850 |
| ebi | rs4986850 |
| HLI | rs4986850 |
| Exac | rs4986850 |
| Gnomad | rs4986850 |
| Varsome | rs4986850 |
| LitVar | rs4986850 |
| Map | rs4986850 |
| PheGenI | rs4986850 |
| Biobank | rs4986850 |
| 1000 genomes | rs4986850 |
| hgdp | rs4986850 |
| ensembl | rs4986850 |
| geneview | rs4986850 |
| scholar | rs4986850 |
| rs4986850 | |
| pharmgkb | rs4986850 |
| gwascentral | rs4986850 |
| openSNP | rs4986850 |
| 23andMe | rs4986850 |
| SNPshot | rs4986850 |
| SNPdbe | rs4986850 |
| MSV3d | rs4986850 |
| GWAS Ctlg | rs4986850 |
| GMAF | 0.03949 |
| 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.
For this particular SNP, the risk (minor) allele is (A).
| ClinVar | |
|---|---|
| Risk | Rs4986850(A;A) rs4986850(T;T) |
| Alt | Rs4986850(A;A) rs4986850(T;T) |
| Reference | Rs4986850(G;G) |
| Significance | Other |
| Disease | Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41245471C>A; NC_000017.10:g.41245471C>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein) |
| CLNACC | RCV000111759.1, RCV000034730.3, RCV000047702.7, RCV000111758.5, RCV000120289.7, RCV000129094.3, RCV000157727.1, |
[PMID 17764108] Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists.
[PMID 19644020
] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
