rs397507763
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) |
| Make rs397507763(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32326283 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507763 |
| dbSNP (classic) | rs397507763 |
| ClinGen | rs397507763 |
| ebi | rs397507763 |
| HLI | rs397507763 |
| Exac | rs397507763 |
| Gnomad | rs397507763 |
| Varsome | rs397507763 |
| LitVar | rs397507763 |
| Map | rs397507763 |
| PheGenI | rs397507763 |
| Biobank | rs397507763 |
| 1000 genomes | rs397507763 |
| hgdp | rs397507763 |
| ensembl | rs397507763 |
| geneview | rs397507763 |
| scholar | rs397507763 |
| rs397507763 | |
| pharmgkb | rs397507763 |
| gwascentral | rs397507763 |
| openSNP | rs397507763 |
| 23andMe | rs397507763 |
| SNPshot | rs397507763 |
| SNPdbe | rs397507763 |
| MSV3d | rs397507763 |
| GWAS Ctlg | rs397507763 |
| Max Magnitude | 0 |
aka c.516+1delG and also c.516+1dupG; the former is considered in ClinVar to be pathogenic for breast cancer, while the pathogenicity of the latter is not available.
Due to the ambiguity over what rs397507763(D;I) might mean as reported in raw data from direct-to-consumer DNA genotyping companies, the heterozygote (D;I) genotype is not annotated, but it would either be pathogenic or of unknown significance.
| ClinVar | |
|---|---|
| Risk | rs397507763(G;G) |
| Alt | rs397507763(G;G) |
| Reference | Rs397507763(-;-) |
| Significance | Untested |
| Disease | Familial cancer of breast |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32900420dupG |
| CLNSRC | ClinVar |
| CLNACC | RCV000044576.2, |
