rs55716624
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.2 | BRCA2 variant likely to be benign |
| Make rs55716624(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32356496 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55716624 |
| dbSNP (classic) | rs55716624 |
| ClinGen | rs55716624 |
| ebi | rs55716624 |
| HLI | rs55716624 |
| Exac | rs55716624 |
| Gnomad | rs55716624 |
| Varsome | rs55716624 |
| LitVar | rs55716624 |
| Map | rs55716624 |
| PheGenI | rs55716624 |
| Biobank | rs55716624 |
| 1000 genomes | rs55716624 |
| hgdp | rs55716624 |
| ensembl | rs55716624 |
| geneview | rs55716624 |
| scholar | rs55716624 |
| rs55716624 | |
| pharmgkb | rs55716624 |
| gwascentral | rs55716624 |
| openSNP | rs55716624 |
| 23andMe | rs55716624 |
| SNPshot | rs55716624 |
| SNPdbe | rs55716624 |
| MSV3d | rs55716624 |
| GWAS Ctlg | rs55716624 |
| Max Magnitude | 1.2 |
aka c.7504C>T (p.Arg2502Cys); considered by most submitters to ClinVar to be a benign variant
23andMe name: i5009331
| ClinVar | |
|---|---|
| Risk | rs55716624(T;T) |
| Alt | rs55716624(T;T) |
| Reference | Rs55716624(C;C) |
| Significance | Other |
| Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32930633C>T |
| CLNSRC | Ambry Genetics ClinVar University of Washington |
| CLNACC | RCV000034459.3, RCV000045233.5, RCV000077403.3, RCV000131136.3, RCV000148436.1, RCV000168602.7, |
