SNP Detail For rs4938642
1.Mapping Information
Human SNP ID rs4938642
Human chromosome chr11
Human SNP position 119229196
Pig chromosome chr9
Pig SNP position 51468046
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
Region11q23.3
Chromosome idchr11
Chromosome position119229196
Reported geneCBL
Mapped geneCBL
Upstream gene id
Downstream gene id
SNP gene ids867
Upstream gene distance
Downstream gene distance
SNP risk allelers4938642-C
SNPsrs4938642
Merged0
SNP id current4938642
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000000008
Pvalue mlog10.096910013008
P value text
Or beta4.73
%95 Ci[3.31-6.15] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337