SNP Detail For rs8176743
1.Mapping Information
Human SNP ID rs8176743
Human chromosome chr9
Human SNP position 133256028
Pig chromosome chr6
Pig SNP position 39924531
2.Annotation Information
PubMed ID25173106
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25173106
StudyGenome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Disease/TraitIntraocular pressure
Initial sample7,738 Asian ancestry individuals, 27,558 European ancestry individuals
Replication sampleNA
Region9q34.2
Chromosome idchr9
Chromosome position133256028
Reported geneABO
Mapped geneABO
Upstream gene id
Downstream gene id
SNP gene ids28
Upstream gene distance
Downstream gene distance
SNP risk allelers8176743-T
SNPsrs8176743
Merged0
SNP id current8176743
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.00000000003
Pvalue mlog10.5228787452803
P value text
Or beta0.261
%95 Ci[0.18-0.34] mm Hg increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitintraocular pressure measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004695
Study accessionGCST002580
PubMed ID23381943
JournalAnn Neurol
Linkwww.ncbi.nlm.nih.gov/pubmed/23381943
StudyIschemic stroke is associated with the ABO locus: the EuroCLOT study.
Disease/TraitEnd-stage coagulation
Initial sample2,100 European ancestry individuals
Replication sampleNA
Region9q34.2
Chromosome idchr9
Chromosome position133256028
Reported geneABO
Mapped geneABO
Upstream gene id
Downstream gene id
SNP gene ids28
Upstream gene distance
Downstream gene distance
SNP risk allelers8176743-C
SNPsrs8176743
Merged0
SNP id current8176743
Contextmissense_variant
Intergenic0
Allele frequency0.939
P value0.00000000000000002
Pvalue mlog16.698970004336
P value text(vWF)
Or beta0.582
%95 Ci[0.45-0.72] unit decrease
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitvon Willebrand factor measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004629
Study accessionGCST001798