rs138996609
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs138996609(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 17022685 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138996609 |
| dbSNP (classic) | rs138996609 |
| ClinGen | rs138996609 |
| ebi | rs138996609 |
| HLI | rs138996609 |
| Exac | rs138996609 |
| Gnomad | rs138996609 |
| Varsome | rs138996609 |
| LitVar | rs138996609 |
| Map | rs138996609 |
| PheGenI | rs138996609 |
| Biobank | rs138996609 |
| 1000 genomes | rs138996609 |
| hgdp | rs138996609 |
| ensembl | rs138996609 |
| geneview | rs138996609 |
| scholar | rs138996609 |
| rs138996609 | |
| pharmgkb | rs138996609 |
| gwascentral | rs138996609 |
| openSNP | rs138996609 |
| 23andMe | rs138996609 |
| SNPshot | rs138996609 |
| SNPdbe | rs138996609 |
| MSV3d | rs138996609 |
| GWAS Ctlg | rs138996609 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs138996609(A;A) |
| Alt | rs138996609(A;A) |
| Reference | Rs138996609(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17349180G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000164435.1, |
