rs74315367
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs74315367(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17024025 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315367 |
| dbSNP (classic) | rs74315367 |
| ClinGen | rs74315367 |
| ebi | rs74315367 |
| HLI | rs74315367 |
| Exac | rs74315367 |
| Gnomad | rs74315367 |
| Varsome | rs74315367 |
| LitVar | rs74315367 |
| Map | rs74315367 |
| PheGenI | rs74315367 |
| Biobank | rs74315367 |
| 1000 genomes | rs74315367 |
| hgdp | rs74315367 |
| ensembl | rs74315367 |
| geneview | rs74315367 |
| scholar | rs74315367 |
| rs74315367 | |
| pharmgkb | rs74315367 |
| gwascentral | rs74315367 |
| openSNP | rs74315367 |
| 23andMe | rs74315367 |
| SNPshot | rs74315367 |
| SNPdbe | rs74315367 |
| MSV3d | rs74315367 |
| GWAS Ctlg | rs74315367 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs74315367(G;G) |
| Alt | rs74315367(G;G) |
| Reference | Rs74315367(C;C) |
| Significance | Pathogenic |
| Disease | Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17350520G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013617.24, RCV000030623.2, RCV000213984.2, RCV000465474.1, |
[PMID 18419] Exsheathment of the infective larva of Labiostrongylus eugenii, a nematode parasite of the Kangaroo Island wallaby Macropus eugenii.
[PMID 14715873] A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
[PMID 14974914] Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
[PMID 17102084] The occurrence of SDHB gene mutations in pheochromocytoma.
[PMID 18519664] Cells silenced for SDHB expression display characteristic features of the tumor phenotype.
[PMID 19802898] Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
