SNP Detail For rs13149993
1.Mapping Information
Human SNP ID rs13149993
Human chromosome chr4
Human SNP position 80237391
Pig chromosome chr8
Pig SNP position 146726808
2.Annotation Information
PubMed ID26390057
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26390057
StudyTrans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Disease/TraitMean arterial pressure
Initial sample31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals
Replication sample87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals and 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80237391
Reported geneFGF5
Mapped geneLOC105377304
Upstream gene id
Downstream gene id
SNP gene ids105377304
Upstream gene distance
Downstream gene distance
SNP risk allelers13149993-A
SNPsrs13149993
Merged
SNP id current13149993
Contextintergenic_variant
Intergenic0
Allele frequency0.3421
P value0.00000000000000002
Pvalue mlog16.698970004336
P value text
Or beta0.5673
%95 Ci[0.44-0.7] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitmean arterial pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006340
Study accessionGCST003275
PubMed ID26390057
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26390057
StudyTrans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Disease/TraitMean arterial pressure
Initial sample31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals
Replication sample87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals and 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80237391
Reported geneFGF5
Mapped geneLOC105377304
Upstream gene id
Downstream gene id
SNP gene ids105377304
Upstream gene distance
Downstream gene distance
SNP risk allelers13149993-A
SNPsrs13149993
Merged
SNP id current13149993
Contextintergenic_variant
Intergenic0
Allele frequency0.4038
P value0.000000000009
Pvalue mlog11.0457574905606
P value text(East Asians)
Or beta0.7718
%95 Ci[0.55-0.99] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitmean arterial pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006340
Study accessionGCST003275
PubMed ID26390057
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26390057
StudyTrans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Disease/TraitMean arterial pressure
Initial sample31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals
Replication sample87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals and 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80237391
Reported geneFGF5
Mapped geneLOC105377304
Upstream gene id
Downstream gene id
SNP gene ids105377304
Upstream gene distance
Downstream gene distance
SNP risk allelers13149993-A
SNPsrs13149993
Merged
SNP id current13149993
Contextintergenic_variant
Intergenic0
Allele frequency0.2838
P value0.0000001
Pvalue mlog7
P value text(South Asians)
Or beta0.6454
%95 Ci[0.41-0.89] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitmean arterial pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006340
Study accessionGCST003275