SNP Detail For rs2291738
1.Mapping Information
Human SNP ID rs2291738
Human chromosome chr12
Human SNP position 56421497
Pig chromosome chr5
Pig SNP position 23311647
2.Annotation Information
PubMed ID24144296
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24144296
StudyNine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Disease/TraitAxial length
Initial sample12,531 European ancestry individuals
Replication sample8,216 Asian ancestry individuals
Region12q13.3
Chromosome idchr12
Chromosome position56421497
Reported geneGLS2, SPRYD4, TIMELESS, PAN2, STAT2, MIP, IL23A, APOF
Mapped geneTIMELESS
Upstream gene id
Downstream gene id
SNP gene ids8914
Upstream gene distance
Downstream gene distance
SNP risk allelers2291738-T
SNPsrs2291738
Merged0
SNP id current2291738
Contextsplice_region_variant
Intergenic0
Allele frequency0.554
P value0.0000004
Pvalue mlog6.39794000867203
P value text
Or beta0.0518
%95 Ci[0.032-0.072] unit increase
PlatformIllumina [2500000] (imputed)
CNVN
Mapped traitaxial length measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005318
Study accessionGCST002115