SNP Detail For rs385893
1.Mapping Information
Human SNP ID rs385893
Human chromosome chr9
Human SNP position 4763176
Pig chromosome chr1
Pig SNP position 243057470
2.Annotation Information
PubMed ID19820697
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19820697
StudyA genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Disease/TraitHematological parameters
Initial sample4,627 European ancestry individuals
Replication sample9,316 European ancestry individuals
Region9p24.1
Chromosome idchr9
Chromosome position4763176
Reported geneAK3
Mapped geneAK3 - RPS5P6
Upstream gene id50808
Downstream gene id392282
SNP gene ids
Upstream gene distance21133
Downstream gene distance18241
SNP risk allelers385893-C
SNPsrs385893
Merged0
SNP id current385893
Contextregulatory_region_variant
Intergenic1
Allele frequencyNR
P value0.00000000000000009
Pvalue mlog16.0457574905606
P value text(PLT)
Or beta6.26
%95 Ci[4.78-7.74] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2110000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST000498
PubMed ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitPlatelet count
Initial sample14,806 Japanese ancestry individuals
Replication sampleNA
Region9p24.1
Chromosome idchr9
Chromosome position4763176
Reported geneAK3
Mapped geneAK3 - RPS5P6
Upstream gene id50808
Downstream gene id392282
SNP gene ids
Upstream gene distance21133
Downstream gene distance18241
SNP risk allelers385893-C
SNPsrs385893
Merged0
SNP id current385893
Contextregulatory_region_variant
Intergenic1
Allele frequency0.76
P value0.0000000000003
Pvalue mlog12.5228787452803
P value text
Or beta5.928
%95 Ci[4.344-7.507] unit increase
PlatformIllumina [561583]
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST000580
PubMed ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitPlatelet count
Initial sample14,806 Japanese ancestry individuals
Replication sampleNA
Region9p24.1
Chromosome idchr9
Chromosome position4763176
Reported geneRCL1
Mapped geneAK3 - RPS5P6
Upstream gene id50808
Downstream gene id392282
SNP gene ids
Upstream gene distance21133
Downstream gene distance18241
SNP risk allelers385893-T
SNPsrs385893
Merged0
SNP id current385893
Contextregulatory_region_variant
Intergenic1
Allele frequency0.25
P value0.0000000000003
Pvalue mlog12.5228787452803
P value text
Or beta0.099
%95 Ci[0.072-0.126] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST000580