SNP Detail For rs4658101
1.Mapping Information
Human SNP ID rs4658101
Human chromosome chr1
Human SNP position 91611852
Pig chromosome chr4
Pig SNP position 137008196
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
Region1p22.1
Chromosome idchr1
Chromosome position91611852
Reported geneCDC7, TGFBR3
Mapped geneRPL39P13 - HSP90B3P
Upstream gene id100130802
Downstream gene id343477
SNP gene ids
Upstream gene distance11348
Downstream gene distance30666
SNP risk allelers4658101-A
SNPsrs4658101
Merged0
SNP id current4658101
Contextregulatory_region_variant
Intergenic1
Allele frequencyNR
P value0.000000000000001
Pvalue mlog15
P value text
Or beta0.015
%95 Ci[0.011-0.019] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST002626