rs111430410
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111430410(C;T) |
| Make rs111430410(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17053988 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111430410 |
| dbSNP (classic) | rs111430410 |
| ClinGen | rs111430410 |
| ebi | rs111430410 |
| HLI | rs111430410 |
| Exac | rs111430410 |
| Gnomad | rs111430410 |
| Varsome | rs111430410 |
| LitVar | rs111430410 |
| Map | rs111430410 |
| PheGenI | rs111430410 |
| Biobank | rs111430410 |
| 1000 genomes | rs111430410 |
| hgdp | rs111430410 |
| ensembl | rs111430410 |
| geneview | rs111430410 |
| scholar | rs111430410 |
| rs111430410 | |
| pharmgkb | rs111430410 |
| gwascentral | rs111430410 |
| openSNP | rs111430410 |
| 23andMe | rs111430410 |
| SNPshot | rs111430410 |
| SNPdbe | rs111430410 |
| MSV3d | rs111430410 |
| GWAS Ctlg | rs111430410 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111430410(T;T) |
| Alt | rs111430410(T;T) |
| Reference | Rs111430410(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Pheochromocytoma Renal cell carcinoma Gastrointestinal stromal tumor Paragangliomas 4 |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Pheochromocytoma Renal cell carcinoma Gastrointestinal stromal tumor Paragangliomas 4 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17380483C>T |
| CLNSRC | ClinVar LabCorp University of Washington |
| CLNACC | RCV000030447.1, RCV000148868.1, RCV000232749.2, |
[PMID 18728283] Germline SDHB mutations and familial renal cell carcinoma.
[PMID 19184535] SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.
