rs74315369
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs74315369(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 17044882 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315369 |
| dbSNP (classic) | rs74315369 |
| ClinGen | rs74315369 |
| ebi | rs74315369 |
| HLI | rs74315369 |
| Exac | rs74315369 |
| Gnomad | rs74315369 |
| Varsome | rs74315369 |
| LitVar | rs74315369 |
| Map | rs74315369 |
| PheGenI | rs74315369 |
| Biobank | rs74315369 |
| 1000 genomes | rs74315369 |
| hgdp | rs74315369 |
| ensembl | rs74315369 |
| geneview | rs74315369 |
| scholar | rs74315369 |
| rs74315369 | |
| pharmgkb | rs74315369 |
| gwascentral | rs74315369 |
| openSNP | rs74315369 |
| 23andMe | rs74315369 |
| SNPshot | rs74315369 |
| SNPdbe | rs74315369 |
| MSV3d | rs74315369 |
| GWAS Ctlg | rs74315369 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs74315369(G;G) rs74315369(T;T) |
| Alt | rs74315369(G;G) rs74315369(T;T) |
| Reference | Rs74315369(C;C) |
| Significance | Pathogenic |
| Disease | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17371377G>A; NC_000001.10:g.17371377G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013623.27, RCV000013624.20, RCV000129929.2, RCV000471400.1, RCV000148870.1, RCV000408969.1, RCV000455540.1, RCV000477264.1, RCV000492780.1, |
