SNP Detail For rs2384550
1.Mapping Information
Human SNP ID rs2384550
Human chromosome chr12
Human SNP position 114914926
Pig chromosome chr14
Pig SNP position 39800406
2.Annotation Information
PubMed ID21909110
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21909110
StudyGenome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Disease/TraitBlood pressure
Initial sample74,064 European ancestry individuals
Replication sample48,607 European ancestry individuals
Region12q24.21
Chromosome idchr12
Chromosome position114914926
Reported geneTBX5, TBX3
Mapped geneLOC105369999 - LOC102723639
Upstream gene id105369999
Downstream gene id102723639
SNP gene ids
Upstream gene distance179138
Downstream gene distance98261
SNP risk allelers2384550-G
SNPsrs2384550
Merged0
SNP id current2384550
Contextregulatory_region_variant
Intergenic1
Allele frequency0.66
P value0.000004
Pvalue mlog5.39794000867203
P value text(Mean Arterial Pressure)
Or beta0.227
%95 Ci[0.13-0.32] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [NR] (imputed)
CNVN
Mapped traitmean arterial pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006340
Study accessionGCST001236
PubMed ID19430479
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19430479
StudyGenome-wide association study of blood pressure and hypertension.
Disease/TraitDiastolic blood pressure
Initial sample29,136 European ancestry individuals
Replication sample34,433 European ancestry individuals
Region12q24.21
Chromosome idchr12
Chromosome position114914926
Reported geneTBX5, TBX3
Mapped geneLOC105369999 - LOC102723639
Upstream gene id105369999
Downstream gene id102723639
SNP gene ids
Upstream gene distance179138
Downstream gene distance98261
SNP risk allelers2384550-A
SNPsrs2384550
Merged0
SNP id current2384550
Contextregulatory_region_variant
Intergenic1
Allele frequency0.35
P value0.00000004
Pvalue mlog7.39794000867203
P value text
Or beta0.35
%95 Ci[0.23-0.47] mm Hg decrease
PlatformAffymetrix, Illumina [2533153] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST000396