SNP Detail For rs1192419
1.Mapping Information
Human SNP ID rs1192419
Human chromosome chr1
Human SNP position 91614502
Pig chromosome chr4
Pig SNP position 137011174
2.Annotation Information
PubMed ID25631615
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/25631615
StudyMeta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Disease/TraitOptic disc area
Initial sample15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals
Replication sample2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals
Region1p22.1
Chromosome idchr1
Chromosome position91614502
Reported geneCDC7, TGFBR3
Mapped geneRPL39P13 - HSP90B3P
Upstream gene id100130802
Downstream gene id343477
SNP gene ids
Upstream gene distance13998
Downstream gene distance28016
SNP risk allelers1192419-A
SNPsrs1192419
Merged0
SNP id current1192419
Contextintergenic_variant
Intergenic1
Allele frequency0.18
P value8E-56
Pvalue mlog55.096910013008
P value text
Or beta0.087
%95 Ci[0.075-0.099] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc area measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006937
Study accessionGCST002765
PubMed ID25631615
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/25631615
StudyMeta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Disease/TraitOptic disc area
Initial sample15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals
Replication sample2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals
Region1p22.1
Chromosome idchr1
Chromosome position91614502
Reported geneCDC7, TGFBR3
Mapped geneRPL39P13 - HSP90B3P
Upstream gene id100130802
Downstream gene id343477
SNP gene ids
Upstream gene distance13998
Downstream gene distance28016
SNP risk allelers1192419-A
SNPsrs1192419
Merged0
SNP id current1192419
Contextintergenic_variant
Intergenic1
Allele frequency0.18
P value4E-38
Pvalue mlog37.397940008672
P value text(EA)
Or beta0.085
%95 Ci[0.071-0.099] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc area measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006937
Study accessionGCST002765