rs1801406
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 0 | benign variant |
| (G;G) | 0 | benign variant |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32337751 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801406 |
| dbSNP (classic) | rs1801406 |
| ClinGen | rs1801406 |
| ebi | rs1801406 |
| HLI | rs1801406 |
| Exac | rs1801406 |
| Gnomad | rs1801406 |
| Varsome | rs1801406 |
| LitVar | rs1801406 |
| Map | rs1801406 |
| PheGenI | rs1801406 |
| Biobank | rs1801406 |
| 1000 genomes | rs1801406 |
| hgdp | rs1801406 |
| ensembl | rs1801406 |
| geneview | rs1801406 |
| scholar | rs1801406 |
| rs1801406 | |
| pharmgkb | rs1801406 |
| gwascentral | rs1801406 |
| openSNP | rs1801406 |
| 23andMe | rs1801406 |
| SNPshot | rs1801406 |
| SNPdbe | rs1801406 |
| MSV3d | rs1801406 |
| GWAS Ctlg | rs1801406 |
| GMAF | 0.2787 |
| Max Magnitude | 0 |
rs1801406, also known as c.3396A>C, p.Lys1132Asn and K1132N, is a variant in the BRCA2 gene classified as benign in ClinVar.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19902366
] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
[PMID 21346221] Risk of acute promyelocytic leukemia in multiple sclerosis: coding variants of DNA repair genes
| ClinVar | |
|---|---|
| Risk | rs1801406(C;C) Rs1801406(G;G) |
| Alt | rs1801406(C;C) Rs1801406(G;G) |
| Reference | Rs1801406(A;A) |
| Significance | Non-pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Fanconi anemia Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Fanconi anemia Hereditary breast and ovarian cancer syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32911888A>C; NC_000013.10:g.32911888A>G |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000113169.1, RCV000113170.4, RCV000114982.3, RCV000130987.2, RCV000152873.5, RCV000337515.1, RCV000375777.2, |
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
