rs398123690
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 6.2 | Hereditary PGL/PCC Syndrome |
| (-;CC) | 6.2 | Hereditary PGL/PCC Syndrome |
| (CC;CC) | 0 | common/normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17044848 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123690 |
| dbSNP (classic) | rs398123690 |
| ClinGen | rs398123690 |
| ebi | rs398123690 |
| HLI | rs398123690 |
| Exac | rs398123690 |
| Gnomad | rs398123690 |
| Varsome | rs398123690 |
| LitVar | rs398123690 |
| Map | rs398123690 |
| PheGenI | rs398123690 |
| Biobank | rs398123690 |
| 1000 genomes | rs398123690 |
| hgdp | rs398123690 |
| ensembl | rs398123690 |
| geneview | rs398123690 |
| scholar | rs398123690 |
| rs398123690 | |
| pharmgkb | rs398123690 |
| gwascentral | rs398123690 |
| openSNP | rs398123690 |
| 23andMe | rs398123690 |
| SNPshot | rs398123690 |
| SNPdbe | rs398123690 |
| MSV3d | rs398123690 |
| GWAS Ctlg | rs398123690 |
| Max Magnitude | 6.2 |
aka c.112delG as well as c.111_112dupGG; both are considered in ClinVar to be pathogenic, either for pheochromocytomas or a hereditary cancer predisposing syndrome, respectively
| ClinVar | |
|---|---|
| Risk | Rs398123690(CC;CC) |
| Alt | Rs398123690(CC;CC) |
| Reference | Rs398123690(-;-) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SDHB |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17371344_17371345dupGG |
| CLNSRC | ClinVar |
| CLNACC | RCV000080042.3, |
