rs80338847
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| (T;T) | 0 | common in clinvar |
| Make rs80338847(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 112094906 |
| Gene | SDHD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338847 |
| dbSNP (classic) | rs80338847 |
| ClinGen | rs80338847 |
| ebi | rs80338847 |
| HLI | rs80338847 |
| Exac | rs80338847 |
| Gnomad | rs80338847 |
| Varsome | rs80338847 |
| LitVar | rs80338847 |
| Map | rs80338847 |
| PheGenI | rs80338847 |
| Biobank | rs80338847 |
| 1000 genomes | rs80338847 |
| hgdp | rs80338847 |
| ensembl | rs80338847 |
| geneview | rs80338847 |
| scholar | rs80338847 |
| rs80338847 | |
| pharmgkb | rs80338847 |
| gwascentral | rs80338847 |
| openSNP | rs80338847 |
| 23andMe | rs80338847 |
| SNPshot | rs80338847 |
| SNPdbe | rs80338847 |
| MSV3d | rs80338847 |
| GWAS Ctlg | rs80338847 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs80338847(C;C) |
| Alt | rs80338847(C;C) |
| Reference | Rs80338847(T;T) |
| Significance | Pathogenic |
| Disease | Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Variation | info |
| Gene | SDHD |
| CLNDBN | Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Reversed | 0 |
| HGVS | NC_000011.9:g.111965630T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007316.4, RCV000020523.1, |
[PMID 11391798] Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
[PMID 12114404] Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.
