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]