SNP Detail For rs649729
1.Mapping Information
Human SNP ID rs649729
Human chromosome chr2
Human SNP position 31241519
Pig chromosome chr3
Pig SNP position 114851501
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
Region2p23.1
Chromosome idchr2
Chromosome position31241519
Reported geneEHD3
Mapped geneEHD3
Upstream gene id
Downstream gene id
SNP gene ids30845
Upstream gene distance
Downstream gene distance
SNP risk allelers649729-T
SNPsrs649729
Merged0
SNP id current649729
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000000001
Pvalue mlog12
P value text
Or beta0.008
%95 Ci[0.006-0.01] ln(fl) increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST001335
PubMed ID24026423
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24026423
StudyA genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Disease/TraitMean platelet volume
Initial sample6,291 European ancestry individuals
Replication sampleNA
Region2p23.1
Chromosome idchr2
Chromosome position31241519
Reported geneEHD3
Mapped geneEHD3
Upstream gene id
Downstream gene id
SNP gene ids30845
Upstream gene distance
Downstream gene distance
SNP risk allelers649729-A
SNPsrs649729
Merged0
SNP id current649729
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta0.07
%95 Ci[NR] unit decrease
PlatformIllumina [476395]
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST002184