rs121908823
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908823(A;A) |
| Make rs121908823(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 96254974 |
| Gene | TMEM127 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908823 |
| dbSNP (classic) | rs121908823 |
| ClinGen | rs121908823 |
| ebi | rs121908823 |
| HLI | rs121908823 |
| Exac | rs121908823 |
| Gnomad | rs121908823 |
| Varsome | rs121908823 |
| LitVar | rs121908823 |
| Map | rs121908823 |
| PheGenI | rs121908823 |
| Biobank | rs121908823 |
| 1000 genomes | rs121908823 |
| hgdp | rs121908823 |
| ensembl | rs121908823 |
| geneview | rs121908823 |
| scholar | rs121908823 |
| rs121908823 | |
| pharmgkb | rs121908823 |
| gwascentral | rs121908823 |
| openSNP | rs121908823 |
| 23andMe | rs121908823 |
| SNPshot | rs121908823 |
| SNPdbe | rs121908823 |
| MSV3d | rs121908823 |
| GWAS Ctlg | rs121908823 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908823(A;A) |
| Alt | rs121908823(A;A) |
| Reference | Rs121908823(G;G) |
| Significance | Other |
| Disease | Pheochromocytoma Hereditary cancer-predisposing syndrome Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Variation | info |
| Gene | TMEM127 |
| CLNDBN | Pheochromocytoma Hereditary cancer-predisposing syndrome Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| Reversed | 1 |
| HGVS | NC_000002.11:g.96920712C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000123408.3, RCV000162495.2, RCV000226605.2, |
[PMID 20154675
] Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
