rs772551056
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.2 | Hereditary PGL/PCC Syndrome |
| (C;C) | 0 | common in clinvar |
| Make rs772551056(C;T) |
| Make rs772551056(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 17044824 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772551056 |
| dbSNP (classic) | rs772551056 |
| ClinGen | rs772551056 |
| ebi | rs772551056 |
| HLI | rs772551056 |
| Exac | rs772551056 |
| Gnomad | rs772551056 |
| Varsome | rs772551056 |
| LitVar | rs772551056 |
| Map | rs772551056 |
| PheGenI | rs772551056 |
| Biobank | rs772551056 |
| 1000 genomes | rs772551056 |
| hgdp | rs772551056 |
| ensembl | rs772551056 |
| geneview | rs772551056 |
| scholar | rs772551056 |
| rs772551056 | |
| pharmgkb | rs772551056 |
| gwascentral | rs772551056 |
| openSNP | rs772551056 |
| 23andMe | rs772551056 |
| SNPshot | rs772551056 |
| SNPdbe | rs772551056 |
| MSV3d | rs772551056 |
| GWAS Ctlg | rs772551056 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs772551056(A;A) rs772551056(T;T) |
| Alt | rs772551056(A;A) rs772551056(T;T) |
| Reference | Rs772551056(C;C) |
| Significance | Pathogenic |
| Disease | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17371319C>A; NC_000001.10:g.17371319C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000473045.1, RCV000162578.3, RCV000183217.3, RCV000232432.2, |
