rs397516836
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs397516836(A;A) |
| Make rs397516836(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17024015 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516836 |
| dbSNP (classic) | rs397516836 |
| ClinGen | rs397516836 |
| ebi | rs397516836 |
| HLI | rs397516836 |
| Exac | rs397516836 |
| Gnomad | rs397516836 |
| Varsome | rs397516836 |
| LitVar | rs397516836 |
| Map | rs397516836 |
| PheGenI | rs397516836 |
| Biobank | rs397516836 |
| 1000 genomes | rs397516836 |
| hgdp | rs397516836 |
| ensembl | rs397516836 |
| geneview | rs397516836 |
| scholar | rs397516836 |
| rs397516836 | |
| pharmgkb | rs397516836 |
| gwascentral | rs397516836 |
| openSNP | rs397516836 |
| 23andMe | rs397516836 |
| SNPshot | rs397516836 |
| SNPdbe | rs397516836 |
| MSV3d | rs397516836 |
| GWAS Ctlg | rs397516836 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs397516836(A;A) rs397516836(T;T) |
| Alt | rs397516836(A;A) rs397516836(T;T) |
| Reference | Rs397516836(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17350510C>A; NC_000001.10:g.17350510C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000162460.3, RCV000462889.1, RCV000037723.2, RCV000492138.1, |
