rs169547
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 1 | Benign variant |
| (G;G) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32355250 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs169547 |
| dbSNP (classic) | rs169547 |
| ClinGen | rs169547 |
| ebi | rs169547 |
| HLI | rs169547 |
| Exac | rs169547 |
| Gnomad | rs169547 |
| Varsome | rs169547 |
| LitVar | rs169547 |
| Map | rs169547 |
| PheGenI | rs169547 |
| Biobank | rs169547 |
| 1000 genomes | rs169547 |
| hgdp | rs169547 |
| ensembl | rs169547 |
| geneview | rs169547 |
| scholar | rs169547 |
| rs169547 | |
| pharmgkb | rs169547 |
| gwascentral | rs169547 |
| openSNP | rs169547 |
| 23andMe | rs169547 |
| SNPshot | rs169547 |
| SNPdbe | rs169547 |
| MSV3d | rs169547 |
| GWAS Ctlg | rs169547 |
| GMAF | 0.0225 |
| Max Magnitude | 1 |
aka c.7397C>T (p.Ala2466Val); a benign BRCA2 variant
23andMe name: i5009334
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs169547(G;G) |
| Alt | Rs169547(G;G) |
| Reference | Rs169547(A;A) |
| Significance | Non-pathogenic |
| Disease | Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 not specified Hereditary breast and ovarian cancer syndrome Familial cancer of breast Ductal breast carcinoma |
| Reversed | 1 |
| HGVS | NC_000013.10:g.32929387T\x3d; NC_000013.10:g.32929387T>C |
| CLNSRC | HGMD |
| CLNACC | RCV000113751.2, RCV000168597.1, RCV000203672.2, RCV000476057.1, RCV000120357.6, RCV000207137.1, |
