rs397507247
From SNPedia
| Merged into | rs80357906 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 4 | linked to certain hereditary cancers |
| Make rs397507247(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43057062 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507247 |
| dbSNP (classic) | rs397507247 |
| ClinGen | rs397507247 |
| ebi | rs397507247 |
| HLI | rs397507247 |
| Exac | rs397507247 |
| Gnomad | rs397507247 |
| Varsome | rs397507247 |
| LitVar | rs397507247 |
| Map | rs397507247 |
| PheGenI | rs397507247 |
| Biobank | rs397507247 |
| 1000 genomes | rs397507247 |
| hgdp | rs397507247 |
| ensembl | rs397507247 |
| geneview | rs397507247 |
| scholar | rs397507247 |
| rs397507247 | |
| pharmgkb | rs397507247 |
| gwascentral | rs397507247 |
| openSNP | rs397507247 |
| 23andMe | rs397507247 |
| SNPshot | rs397507247 |
| SNPdbe | rs397507247 |
| MSV3d | rs397507247 |
| GWAS Ctlg | rs397507247 |
| Status | Merged into rs80357906 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | rs397507247(C;C) |
| Alt | rs397507247(C;C) |
| Reference | Rs397507247(;) |
| Significance | Other |
| Disease | Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41209082dupG |
| CLNSRC | Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant |
| CLNACC | RCV000019246.18, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.4, |
