rs16942
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 2 | very slightly increased breast cancer risk |
| (G;G) | 2 | very slightly increased breast cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43091983 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16942 |
| dbSNP (classic) | rs16942 |
| ClinGen | rs16942 |
| ebi | rs16942 |
| HLI | rs16942 |
| Exac | rs16942 |
| Gnomad | rs16942 |
| Varsome | rs16942 |
| LitVar | rs16942 |
| Map | rs16942 |
| PheGenI | rs16942 |
| Biobank | rs16942 |
| 1000 genomes | rs16942 |
| hgdp | rs16942 |
| ensembl | rs16942 |
| geneview | rs16942 |
| scholar | rs16942 |
| rs16942 | |
| pharmgkb | rs16942 |
| gwascentral | rs16942 |
| openSNP | rs16942 |
| 23andMe | rs16942 |
| SNPshot | rs16942 |
| SNPdbe | rs16942 |
| MSV3d | rs16942 |
| GWAS Ctlg | rs16942 |
| GMAF | 0.3242 |
| 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 this particular SNP, the risk (minor) allele is (G).
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 or BRCA1 and BRCA2.
[PMID 21890493
] Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
| ClinVar | |
|---|---|
| Risk | Rs16942(G;G) |
| Alt | Rs16942(G;G) |
| Reference | Rs16942(A;A) |
| Significance | Other |
| Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome 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 Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41244000T>C |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein) |
| CLNACC | RCV000034742.3, RCV000048229.6, RCV000112115.5, RCV000120278.6, RCV000128991.4, RCV000460753.1, |
[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 23313170] Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.
