SNP Detail For rs6054512
1.Mapping Information
Human SNP ID rs6054512
Human chromosome chr20
Human SNP position 6780865
Pig chromosome chr17
Pig SNP position 17064738
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
Region20p12.3
Chromosome idchr20
Chromosome position6780865
Reported geneBMP2
Mapped geneBMP2 - LINC01428
Upstream gene id650
Downstream gene id101929265
SNP gene ids
Upstream gene distance602
Downstream gene distance365602
SNP risk allelers6054512-T
SNPsrs6054512
Merged0
SNP id current6054512
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.6391
P value0.0000004
Pvalue mlog6.39794000867203
P value text
Or beta0.0589
%95 Ci[0.036-0.082] unit decrease
PlatformIllumina [2500000] (imputed)
CNVN
Mapped traitaxial length measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005318
Study accessionGCST002115