SNP Detail For rs1900005
1.Mapping Information
Human SNP ID rs1900005
Human chromosome chr10
Human SNP position 68238298
Pig chromosome chr14
Pig SNP position 77468079
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
Region10q21.3
Chromosome idchr10
Chromosome position68238298
Reported geneATOH7
Mapped geneATOH7 - PBLD
Upstream gene id220202
Downstream gene id64081
SNP gene ids
Upstream gene distance6185
Downstream gene distance44362
SNP risk allelers1900005-A
SNPsrs1900005
Merged0
SNP id current1900005
Contextintron_variant
Intergenic1
Allele frequencyNR
P value5E-31
Pvalue mlog30.3010299956639
P value text
Or beta0.018
%95 Ci[0.014-0.022] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST002626