SNP Detail For rs17655730
1.Mapping Information
Human SNP ID rs17655730
Human chromosome chr11
Human SNP position 270715
Pig chromosome chr2
Pig SNP position 162142919
2.Annotation Information
PubMed ID22139419
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/22139419
StudyNew gene functions in megakaryopoiesis and platelet formation.
Disease/TraitMean platelet volume
Initial sample16,948 European ancestry individuals, 1,652 Val Borbera individuals
Replication sampleUp to 18,838 European ancestry individuals
Region11p15.5
Chromosome idchr11
Chromosome position270715
Reported genePSMD13, NLRP6
Mapped genePSMD13 - NLRP6
Upstream gene id5719
Downstream gene id171389
SNP gene ids
Upstream gene distance17731
Downstream gene distance7650
SNP risk allelers17655730-T
SNPsrs17655730
Merged0
SNP id current17655730
Contextregulatory_region_variant
Intergenic1
Allele frequencyNR
P value0.000000000000002
Pvalue mlog14.698970004336
P value text
Or beta0.01
%95 Ci[0.008-0.012] ln(fl) increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST001335