rs74315366
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs74315366(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17033078 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315366 |
| dbSNP (classic) | rs74315366 |
| ClinGen | rs74315366 |
| ebi | rs74315366 |
| HLI | rs74315366 |
| Exac | rs74315366 |
| Gnomad | rs74315366 |
| Varsome | rs74315366 |
| LitVar | rs74315366 |
| Map | rs74315366 |
| PheGenI | rs74315366 |
| Biobank | rs74315366 |
| 1000 genomes | rs74315366 |
| hgdp | rs74315366 |
| ensembl | rs74315366 |
| geneview | rs74315366 |
| scholar | rs74315366 |
| rs74315366 | |
| pharmgkb | rs74315366 |
| gwascentral | rs74315366 |
| openSNP | rs74315366 |
| 23andMe | rs74315366 |
| SNPshot | rs74315366 |
| SNPdbe | rs74315366 |
| MSV3d | rs74315366 |
| GWAS Ctlg | rs74315366 |
| GMAF | 0.0004591 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs74315366(G;G) rs74315366(T;T) |
| Alt | rs74315366(G;G) rs74315366(T;T) |
| Reference | Rs74315366(C;C) |
| Significance | Pathogenic |
| Disease | Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Pheochromocytoma not provided Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Pheochromocytoma not provided Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17359573G>A; NC_000001.10:g.17359573G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013616.18, RCV000030621.1, RCV000037718.2, RCV000183211.3, RCV000215883.2, RCV000462989.1, RCV000165299.1, |
[PMID 12364] The concentration of basic and acidic compounds in guinea-pig lung [proceedings].
[PMID 12351569] The pressure rises: update on the genetics of phaeochromocytoma.
[PMID 14715873] A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
[PMID 17102084] The occurrence of SDHB gene mutations in pheochromocytoma.
[PMID 18382370] Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
[PMID 19454582] The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
