SNP Detail For rs4936099
1.Mapping Information
Human SNP ID rs4936099
Human chromosome chr11
Human SNP position 130410830
Pig chromosome chr9
Pig SNP position 63366069
2.Annotation Information
PubMed ID25241763
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25241763
StudyMeta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Disease/TraitVertical cup-disc ratio
Initial sample18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals
Replication sample2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals
Region11q24.3
Chromosome idchr11
Chromosome position130410830
Reported geneADAMTS8
Mapped geneADAMTS8, LOC646383
Upstream gene id
Downstream gene id
SNP gene ids11095, 646383
Upstream gene distance
Downstream gene distance
SNP risk allelers4936099-C
SNPsrs4936099
Merged0
SNP id current4936099
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000005
Pvalue mlog8.30102999566398
P value text
Or beta0.009
%95 Ci[0.0051-0.0129] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST002626