rs200245469
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs200245469(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 17022724 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200245469 |
| dbSNP (classic) | rs200245469 |
| ClinGen | rs200245469 |
| ebi | rs200245469 |
| HLI | rs200245469 |
| Exac | rs200245469 |
| Gnomad | rs200245469 |
| Varsome | rs200245469 |
| LitVar | rs200245469 |
| Map | rs200245469 |
| PheGenI | rs200245469 |
| Biobank | rs200245469 |
| 1000 genomes | rs200245469 |
| hgdp | rs200245469 |
| ensembl | rs200245469 |
| geneview | rs200245469 |
| scholar | rs200245469 |
| rs200245469 | |
| pharmgkb | rs200245469 |
| gwascentral | rs200245469 |
| openSNP | rs200245469 |
| 23andMe | rs200245469 |
| SNPshot | rs200245469 |
| SNPdbe | rs200245469 |
| MSV3d | rs200245469 |
| GWAS Ctlg | rs200245469 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs200245469(A;A) rs200245469(C;C) |
| Alt | rs200245469(A;A) rs200245469(C;C) |
| Reference | Rs200245469(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17349219G>A; NC_000001.10:g.17349219G>C |
| CLNSRC | |
| CLNACC | RCV000162444.3, RCV000480999.1, |
