rs387906650
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs387906650(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 14 |
| Position | 65077985 |
| Gene | MAX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906650 |
| dbSNP (classic) | rs387906650 |
| ClinGen | rs387906650 |
| ebi | rs387906650 |
| HLI | rs387906650 |
| Exac | rs387906650 |
| Gnomad | rs387906650 |
| Varsome | rs387906650 |
| LitVar | rs387906650 |
| Map | rs387906650 |
| PheGenI | rs387906650 |
| Biobank | rs387906650 |
| 1000 genomes | rs387906650 |
| hgdp | rs387906650 |
| ensembl | rs387906650 |
| geneview | rs387906650 |
| scholar | rs387906650 |
| rs387906650 | |
| pharmgkb | rs387906650 |
| gwascentral | rs387906650 |
| openSNP | rs387906650 |
| 23andMe | rs387906650 |
| SNPshot | rs387906650 |
| SNPdbe | rs387906650 |
| MSV3d | rs387906650 |
| GWAS Ctlg | rs387906650 |
| Max Magnitude | 6.2 |
aka c.223C>T (p.Arg75Ter or R75X)
ClinVar and [PMID 29625052
] agree that this mutation is predisposing for a hereditary cancer (paraganglioma-pheochromocytoma) syndrome
