rs190139590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs190139590(A;T) |
| Make rs190139590(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17028580 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs190139590 |
| dbSNP (classic) | rs190139590 |
| ClinGen | rs190139590 |
| ebi | rs190139590 |
| HLI | rs190139590 |
| Exac | rs190139590 |
| Gnomad | rs190139590 |
| Varsome | rs190139590 |
| LitVar | rs190139590 |
| Map | rs190139590 |
| PheGenI | rs190139590 |
| Biobank | rs190139590 |
| 1000 genomes | rs190139590 |
| hgdp | rs190139590 |
| ensembl | rs190139590 |
| geneview | rs190139590 |
| scholar | rs190139590 |
| rs190139590 | |
| pharmgkb | rs190139590 |
| gwascentral | rs190139590 |
| openSNP | rs190139590 |
| 23andMe | rs190139590 |
| SNPshot | rs190139590 |
| SNPdbe | rs190139590 |
| MSV3d | rs190139590 |
| GWAS Ctlg | rs190139590 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs190139590(T;T) |
| Alt | rs190139590(T;T) |
| Reference | Rs190139590(A;A) |
| Significance | Other |
| Disease | Pheochromocytoma not specified Gastrointestinal stromal tumor Paragangliomas 4 |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Pheochromocytoma not specified Gastrointestinal stromal tumor Paragangliomas 4 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17355075A>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000030448.1, RCV000183209.4, RCV000204733.2, |
[PMID 18419787] Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.
