SNP Detail For rs1345467
1.Mapping Information
Human SNP ID rs1345467
Human chromosome chr16
Human SNP position 51448410
Pig chromosome chr6
Pig SNP position 29975677
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
Region16q12.1
Chromosome idchr16
Chromosome position51448410
Reported geneSALL1
Mapped geneLOC102723323
Upstream gene id
Downstream gene id
SNP gene ids102723323
Upstream gene distance
Downstream gene distance
SNP risk allelers1345467-G
SNPsrs1345467
Merged0
SNP id current1345467
Contextintergenic_variant
Intergenic0
Allele frequencyNR
P value0.0000000000004
Pvalue mlog12.397940008672
P value text
Or beta0.01
%95 Ci[0.0080-0.0120] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST002626