SNP Detail For rs4253311
1.Mapping Information
Human SNP ID rs4253311
Human chromosome chr4
Human SNP position 186253529
Pig chromosome chr15
Pig SNP position 53935670
2.Annotation Information
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region4q35.2
Chromosome idchr4
Chromosome position186253529
Reported geneKLKB1
Mapped geneKLKB1
Upstream gene id
Downstream gene id
SNP gene ids3818
Upstream gene distance
Downstream gene distance
SNP risk allelers4253311-A
SNPsrs4253311
Merged0
SNP id current4253311
Contextintron_variant
Intergenic0
Allele frequency0.49
P value4E-48
Pvalue mlog47.397940008672
P value text(bradykinin, des-arg(9))
Or beta0.141
%95 Ci[0.12-0.16] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID25477429
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25477429
StudyGenome-Wide Meta-Analyses of Plasma Renin Activity and Concentration Reveal Association with the Kininogen 1 and Prekallikrein Genes.
Disease/TraitPlasma renin activity levels
Initial sample5,275 European ancestry individuals
Replication sampleNA
Region4q35.2
Chromosome idchr4
Chromosome position186253529
Reported geneKLKB1
Mapped geneKLKB1
Upstream gene id
Downstream gene id
SNP gene ids3818
Upstream gene distance
Downstream gene distance
SNP risk allelers4253311-A
SNPsrs4253311
Merged0
SNP id current4253311
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000006
Pvalue mlog7.22184874961635
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplasma renin activity measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006828
Study accessionGCST002714