rs121918116
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | benign erythrocytosis, resulting in more red blood cells |
| (G;G) | 0 | normal |
| Make rs121918116(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11378194 |
| Gene | EPOR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918116 |
| dbSNP (classic) | rs121918116 |
| ClinGen | rs121918116 |
| ebi | rs121918116 |
| HLI | rs121918116 |
| Exac | rs121918116 |
| Gnomad | rs121918116 |
| Varsome | rs121918116 |
| LitVar | rs121918116 |
| Map | rs121918116 |
| PheGenI | rs121918116 |
| Biobank | rs121918116 |
| 1000 genomes | rs121918116 |
| hgdp | rs121918116 |
| ensembl | rs121918116 |
| geneview | rs121918116 |
| scholar | rs121918116 |
| rs121918116 | |
| pharmgkb | rs121918116 |
| gwascentral | rs121918116 |
| openSNP | rs121918116 |
| 23andMe | rs121918116 |
| SNPshot | rs121918116 |
| SNPdbe | rs121918116 |
| MSV3d | rs121918116 |
| GWAS Ctlg | rs121918116 |
| Max Magnitude | 3 |
rs121918116, also known as c.1317G>A, p.Trp439Ter or W439X, is a rare mutation in the EPOR erythropoietin receptor gene on chromosome 19.
In a large Finnish family with autosomal dominant erythrocytosis (an increased number of circulating red blood cells), researchers found the rs121918116(G) mutation; the phenotype was mild in all individuals, and one individual (Eero Mantyranta) won 3 Olympic gold medals in cross-country skiing, presumably due in part to his body's ability to carry ~50% more oxygen than average.[PMID 8506290
]
| ClinVar | |
|---|---|
| Risk | rs121918116(A;A) |
| Alt | rs121918116(A;A) |
| Reference | Rs121918116(G;G) |
| Significance | Other |
| Disease | Familial erythrocytosis |
| Variation | info |
| Gene | EPOR |
| CLNDBN | Familial erythrocytosis, 1 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.11488870C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018065.28, |
