rs1957948
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1957948(A;A) |
| Make rs1957948(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 65075911 |
| Gene | MAX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1957948 |
| dbSNP (classic) | rs1957948 |
| ClinGen | rs1957948 |
| ebi | rs1957948 |
| HLI | rs1957948 |
| Exac | rs1957948 |
| Gnomad | rs1957948 |
| Varsome | rs1957948 |
| LitVar | rs1957948 |
| Map | rs1957948 |
| PheGenI | rs1957948 |
| Biobank | rs1957948 |
| 1000 genomes | rs1957948 |
| hgdp | rs1957948 |
| ensembl | rs1957948 |
| geneview | rs1957948 |
| scholar | rs1957948 |
| rs1957948 | |
| pharmgkb | rs1957948 |
| gwascentral | rs1957948 |
| openSNP | rs1957948 |
| 23andMe | rs1957948 |
| SNPshot | rs1957948 |
| SNPdbe | rs1957948 |
| MSV3d | rs1957948 |
| GWAS Ctlg | rs1957948 |
| GMAF | 0.4614 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23743562] MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours
| ClinVar | |
|---|---|
| Risk | rs1957948(A;A) |
| Alt | rs1957948(A;A) |
| Reference | Rs1957948(G;G) |
| Significance | Non-pathogenic |
| Disease | Pheochromocytoma |
| Variation | info |
| Gene | MAX |
| CLNDBN | Pheochromocytoma |
| Reversed | 1 |
| HGVS | NC_000014.8:g.65542629C>T |
| CLNSRC | |
| CLNACC | RCV000370674.1, |
