SNP Detail For rs505404
1.Mapping Information
Human SNP ID rs505404
Human chromosome chr11
Human SNP position 243268
Pig chromosome chr2
Pig SNP position 121518237
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
Region11p15.5
Chromosome idchr11
Chromosome position243268
Reported genePSMD13, NLRP6
Mapped genePSMD13
Upstream gene id
Downstream gene id
SNP gene ids5719
Upstream gene distance
Downstream gene distance
SNP risk allelers505404-G
SNPsrs505404
Merged0
SNP id current505404
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value7E-25
Pvalue mlog24.1549019599857
P value text
Or beta4.662
%95 Ci[3.77-5.55] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337