SNP Detail For rs2070729
1.Mapping Information
Human SNP ID rs2070729
Human chromosome chr5
Human SNP position 132484229
Pig chromosome chr2
Pig SNP position 140231219
2.Annotation Information
PubMed ID22139419
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/22139419
StudyNew gene functions in megakaryopoiesis and platelet formation.
Disease/TraitPlatelet count
Initial sample47,005 European ancestry individuals, 1,661 Val Borbera individuals
Replication sampleUp to 18,838 European ancestry individuals
Region5q31.1
Chromosome idchr5
Chromosome position132484229
Reported geneIRF1
Mapped geneIRF1
Upstream gene id
Downstream gene id
SNP gene ids3659
Upstream gene distance
Downstream gene distance
SNP risk allelers2070729-A
SNPsrs2070729
Merged0
SNP id current2070729
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.0000000001
Pvalue mlog10
P value text
Or beta2.394
%95 Ci[1.67-3.12] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337