rs45440292
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs45440292(C;T) |
| Make rs45440292(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 65076071 |
| Gene | MAX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45440292 |
| dbSNP (classic) | rs45440292 |
| ClinGen | rs45440292 |
| ebi | rs45440292 |
| HLI | rs45440292 |
| Exac | rs45440292 |
| Gnomad | rs45440292 |
| Varsome | rs45440292 |
| LitVar | rs45440292 |
| Map | rs45440292 |
| PheGenI | rs45440292 |
| Biobank | rs45440292 |
| 1000 genomes | rs45440292 |
| hgdp | rs45440292 |
| ensembl | rs45440292 |
| geneview | rs45440292 |
| scholar | rs45440292 |
| rs45440292 | |
| pharmgkb | rs45440292 |
| gwascentral | rs45440292 |
| openSNP | rs45440292 |
| 23andMe | rs45440292 |
| SNPshot | rs45440292 |
| SNPdbe | rs45440292 |
| MSV3d | rs45440292 |
| GWAS Ctlg | rs45440292 |
| GMAF | 0.005051 |
| Max Magnitude | 0 |
[PMID 23743562] MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours
| ClinVar | |
|---|---|
| Risk | rs45440292(T;T) |
| Alt | rs45440292(T;T) |
| Reference | Rs45440292(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Pheochromocytoma |
| Variation | info |
| Gene | MAX |
| CLNDBN | Pheochromocytoma |
| Reversed | 0 |
| HGVS | NC_000014.8:g.65542789C>T |
| CLNSRC | |
| CLNACC | RCV000272704.1, |
