SNP Detail For rs3138144
1.Mapping Information
Human SNP ID rs3138144
Human chromosome chr12
Human SNP position 55720985
Pig chromosome chr5
Pig SNP position 22647515
2.Annotation Information
PubMed ID23396134
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23396134
StudyGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Disease/TraitRefractive error
Initial sample37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals
Replication sampleNA
Region12q13.2
Chromosome idchr12
Chromosome position55720985
Reported geneRDH5
Mapped geneBLOC1S1-RDH5, RDH5
Upstream gene id
Downstream gene id
SNP gene ids100528022, 5959
Upstream gene distance
Downstream gene distance
SNP risk allelers3138144-C
SNPsrs3138144
Merged0
SNP id current3138144
Contextintron_variant
Intergenic0
Allele frequency0.48
P value0.000000000004
Pvalue mlog11.397940008672
P value text
Or beta0.119
%95 Ci[0.086-0.152] unit increase
PlatformAffymetrix, Illumina [2500000] (imputed)
CNVN
Mapped traitAbnormality of refraction
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0000539
Study accessionGCST001858