SNP Detail For rs1458038
1.Mapping Information
Human SNP ID rs1458038
Human chromosome chr4
Human SNP position 80243569
Pig chromosome chr8
Pig SNP position 146723605
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
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.3
P value0.00000000000003
Pvalue mlog13.5228787452803
P value text(Mean Arterial Pressure)
Or beta0.403
%95 Ci[0.30-0.51] 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 ID21909115
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21909115
StudyGenetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Disease/TraitDiastolic blood pressure
Initial sample69,395 European ancestry individuals
Replication sampleUp to 133,361 European ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.29
P value9E-25
Pvalue mlog24.0457574905606
P value text
Or beta0.457
%95 Ci[NR] mmHg increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST001228
PubMed ID21909115
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21909115
StudyGenetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Disease/TraitSystolic blood pressure
Initial sample69,395 European ancestry individuals
Replication sampleUp to 133,361 European ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.29
P value2E-23
Pvalue mlog22.698970004336
P value text
Or beta0.706
%95 Ci[NR] mmHg increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitsystolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006335
Study accessionGCST001227
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/TraitSystolic blood 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 position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.2828
P value0.00000005
Pvalue mlog7.30102999566398
P value text(South Asians)
Or beta0.9734
%95 Ci[0.62-1.32] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [2127883] (imputed)
CNVN
Mapped traitsystolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006335
Study accessionGCST003272
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/TraitSystolic blood 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 position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.429
P value0.0000001
Pvalue mlog7
P value text(East Asians)
Or beta0.9738
%95 Ci[0.61-1.33] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [2127883] (imputed)
CNVN
Mapped traitsystolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006335
Study accessionGCST003272
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/TraitDiastolic blood 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, 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.3362
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta0.4717
%95 Ci[0.35-0.59] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST003273
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/TraitDiastolic blood 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, 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.4297
P value0.00000003
Pvalue mlog7.52287874528033
P value text(East Asians)
Or beta0.6098
%95 Ci[0.39-0.83] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST003273
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/TraitDiastolic blood 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, 16,328 South Asian ancestry individuals
Region4q21.21
Chromosome idchr4
Chromosome position80243569
Reported geneFGF5
Mapped genePRDM8 - FGF5
Upstream gene id56978
Downstream gene id2250
SNP gene ids
Upstream gene distance39240
Downstream gene distance23019
SNP risk allelers1458038-T
SNPsrs1458038
Merged0
SNP id current1458038
Contextintergenic_variant
Intergenic1
Allele frequency0.2835
P value0.000000001
Pvalue mlog9
P value text(South Asians)
Or beta0.5935
%95 Ci[0.4-0.79] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST003273