SNP Detail For rs10500355
1.Mapping Information
Human SNP ID rs10500355
Human chromosome chr16
Human SNP position 7409346
Pig chromosome chr3
Pig SNP position 36179630
2.Annotation Information
PubMed ID23474815
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23474815
StudyMeta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Disease/TraitRefractive error
Initial sample6,597 European ancestry and Erasmus Rucphen individuals, 683 Sardinian inidividuals
Replication sample19,763 European ancestry individuals
Region16p13.3
Chromosome idchr16
Chromosome position7409346
Reported geneRBFOX1
Mapped geneRBFOX1
Upstream gene id
Downstream gene id
SNP gene ids54715
Upstream gene distance
Downstream gene distance
SNP risk allelers10500355-?
SNPsrs10500355
Merged0
SNP id current10500355
Contextintron_variant
Intergenic0
Allele frequency0.3721
P value0.000000004
Pvalue mlog8.39794000867203
P value text
Or beta0.111
%95 Ci[0.074-0.147] unit decrease
PlatformAffymetrix, Illumina [2093862] (imputed)
CNVN
Mapped traitAbnormality of refraction
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0000539
Study accessionGCST001898