rs121908816
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GTCT) | 6.2 | Hereditary PGL/PCC Syndrome |
| (GTCT;GTCT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TGTC;TGTC) | 0 | common in complete genomics |
| Make rs121908816(-;-) |
| Make rs121908816(-;TGTC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 96265263 |
| Gene | CIAO1, TMEM127 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908816 |
| dbSNP (classic) | rs121908816 |
| ClinGen | rs121908816 |
| ebi | rs121908816 |
| HLI | rs121908816 |
| Exac | rs121908816 |
| Gnomad | rs121908816 |
| Varsome | rs121908816 |
| LitVar | rs121908816 |
| Map | rs121908816 |
| PheGenI | rs121908816 |
| Biobank | rs121908816 |
| 1000 genomes | rs121908816 |
| hgdp | rs121908816 |
| ensembl | rs121908816 |
| geneview | rs121908816 |
| scholar | rs121908816 |
| rs121908816 | |
| pharmgkb | rs121908816 |
| gwascentral | rs121908816 |
| openSNP | rs121908816 |
| 23andMe | rs121908816 |
| SNPshot | rs121908816 |
| SNPdbe | rs121908816 |
| MSV3d | rs121908816 |
| GWAS Ctlg | rs121908816 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs121908816(-;-) |
| Alt | rs121908816(-;-) |
| Reference | Rs121908816(GTCT;GTCT) |
| Significance | Other |
| Disease | Pheochromocytoma not provided |
| Variation | info |
| Gene | CIAO1 TMEM127 |
| CLNDBN | Pheochromocytoma not provided |
| Reversed | 1 |
| HGVS | NC_000002.11:g.96931000_96931003delAGAC |
| CLNSRC | ClinVar |
| CLNACC | RCV000449515.2, RCV000485576.1, |
[PMID 21156949] Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
