SNP Detail For rs4731120
1.Mapping Information
Human SNP ID rs4731120
Human chromosome chr7
Human SNP position 123771169
Pig chromosome chr18
Pig SNP position 25297581
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
Region7q31.32
Chromosome idchr7
Chromosome position123771169
Reported geneWASL
Mapped geneWASL - HYALP1
Upstream gene id8976
Downstream gene id26062
SNP gene ids
Upstream gene distance22098
Downstream gene distance42970
SNP risk allelers4731120-C
SNPsrs4731120
Merged0
SNP id current4731120
Contextregulatory_region_variant
Intergenic1
Allele frequencyNR
P value0.000000000003
Pvalue mlog11.5228787452803
P value text
Or beta4.14
%95 Ci[2.98-5.3] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337