rs786202100
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CCTCA) | 6.2 | Hereditary PGL/PCC Syndrome |
| (CCTCA;CCTCA) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs786202100(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 17044791 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786202100 |
| dbSNP (classic) | rs786202100 |
| ClinGen | rs786202100 |
| ebi | rs786202100 |
| HLI | rs786202100 |
| Exac | rs786202100 |
| Gnomad | rs786202100 |
| Varsome | rs786202100 |
| LitVar | rs786202100 |
| Map | rs786202100 |
| PheGenI | rs786202100 |
| Biobank | rs786202100 |
| 1000 genomes | rs786202100 |
| hgdp | rs786202100 |
| ensembl | rs786202100 |
| geneview | rs786202100 |
| scholar | rs786202100 |
| rs786202100 | |
| pharmgkb | rs786202100 |
| gwascentral | rs786202100 |
| openSNP | rs786202100 |
| 23andMe | rs786202100 |
| SNPshot | rs786202100 |
| SNPdbe | rs786202100 |
| MSV3d | rs786202100 |
| GWAS Ctlg | rs786202100 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs786202100(-;-) |
| Alt | rs786202100(-;-) |
| Reference | Rs786202100(CCTCA;CCTCA) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17371286_17371290delTGAGG |
| CLNSRC | |
| CLNACC | RCV000164746.3, RCV000467539.1, |
