rs2839471
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 1.6x increased risk for high myopia in Japanese (but not Chinese) | |
| (T;T) | 1.6x increased risk for high myopia in Japanese (but not Chinese) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 42134346 |
| Gene | UMODL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2839471 |
| dbSNP (classic) | rs2839471 |
| ClinGen | rs2839471 |
| ebi | rs2839471 |
| HLI | rs2839471 |
| Exac | rs2839471 |
| Gnomad | rs2839471 |
| Varsome | rs2839471 |
| LitVar | rs2839471 |
| Map | rs2839471 |
| PheGenI | rs2839471 |
| Biobank | rs2839471 |
| 1000 genomes | rs2839471 |
| hgdp | rs2839471 |
| ensembl | rs2839471 |
| geneview | rs2839471 |
| scholar | rs2839471 |
| rs2839471 | |
| pharmgkb | rs2839471 |
| gwascentral | rs2839471 |
| openSNP | rs2839471 |
| 23andMe | rs2839471 |
| SNPshot | rs2839471 |
| SNPdbe | rs2839471 |
| MSV3d | rs2839471 |
| GWAS Ctlg | rs2839471 |
| GMAF | 0.4068 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
In a study of more than 500 Japanese patients with high myopia, the rs2839471(T) allele was associated with higher risk. The odds ratio is 1.68 (p=0.00027). [PMID 18535602]
Despite two previous GWAS studies associating this SNP with high myopia in Japanese populations, no association was seen in a Chinese population studied.[PMID 22194655
]
