SNP Detail For rs2307121
1.Mapping Information
Human SNP ID rs2307121
Human chromosome chr5
Human SNP position 65329685
Pig chromosome chr16
Pig SNP position 47180970
2.Annotation Information
PubMed ID23291589
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23291589
StudyGenome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Disease/TraitCorneal structure
Initial sample13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals
Replication sampleNA
Region5q12.3
Chromosome idchr5
Chromosome position65329685
Reported geneADAMTS6
Mapped geneADAMTS6
Upstream gene id
Downstream gene id
SNP gene ids11174
Upstream gene distance
Downstream gene distance
SNP risk allelers2307121-T
SNPsrs2307121
Merged0
SNP id current2307121
Contextintron_variant
Intergenic0
Allele frequency0.34
P value0.00000000006
Pvalue mlog10.2218487496163
P value text
Or beta0.09
%95 Ci[0.07-0.11] unit increase
PlatformAffymetrix, Illumina [~ 1000000] (imputed)
CNVN
Mapped traitcorneal topography
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004345
Study accessionGCST001806