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rs2839471

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome21
Position42134346
GeneUMODL1
is asnp
is mentioned by
dbSNPrs2839471
ebirs2839471
HLIrs2839471
Exacrs2839471
Varsomers2839471
Maprs2839471
PheGenIrs2839471
hapmaprs2839471
1000 genomesrs2839471
hgdprs2839471
ensemblrs2839471
gopubmedrs2839471
geneviewrs2839471
scholarrs2839471
googlers2839471
pharmgkbrs2839471
gwascentralrs2839471
openSNPrs2839471
23andMers2839471
23andMe allrs2839471
SNP Nexus

SNPshotrs2839471
SNPdbers2839471
MSV3drs2839471
GWAS Ctlgrs2839471
GMAF0.4068
Max Magnitude0
? (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 22194655OA-icon.png]