SNP Detail For rs2309717
1.Mapping Information
Human SNP ID rs2309717
Human chromosome chr4
Human SNP position 28248616
Pig chromosome chr8
Pig SNP position 22360978
2.Annotation Information
PubMed ID25367360
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25367360
StudyGenome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Disease/TraitRefractive astigmatism
Initial sample8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged
Replication sampleNA
Region4p15.1
Chromosome idchr4
Chromosome position28248616
Reported geneSTIM2, PCDH7
Mapped geneLOC105374554
Upstream gene id
Downstream gene id
SNP gene ids105374554
Upstream gene distance
Downstream gene distance
SNP risk allelers2309717-A
SNPsrs2309717
Merged0
SNP id current2309717
Contextintergenic_variant
Intergenic0
Allele frequency0.089
P value0.000001
Pvalue mlog6
P value text(EA, 25 years or older)
Or beta1.143
%95 Ci[1.083-1.206]
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitAstigmatism
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0000483
Study accessionGCST002685