SNP Detail For rs1173771
1.Mapping Information
Human SNP ID rs1173771
Human chromosome chr5
Human SNP position 32814922
Pig chromosome chr16
Pig SNP position 19540442
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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneC5orf23, NPR3
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-G
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.53
P value0.000000004
Pvalue mlog8.39794000867203
P value text(Mean Arterial Pressure)
Or beta0.283
%95 Ci[0.19-0.37] 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 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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneC5orf23, NPR3
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-G
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.53
P value0.000000005
Pvalue mlog8.30102999566398
P value text(Pulse Pressure)
Or beta0.276
%95 Ci[0.18-0.37] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [NR] (imputed)
CNVN
Mapped traitpulse pressure measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005763
Study accessionGCST001235
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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneC5orf23, NPR3
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-G
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.6
P value0.000000000009
Pvalue mlog11.0457574905606
P value text
Or beta0.261
%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/TraitHypertension
Initial sample69,395 European ancestry individuals
Replication sampleUp to 133,361 European ancestry individuals
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneC5orf23, NPR3
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-G
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.6
P value0.0000000003
Pvalue mlog9.52287874528033
P value text
Or beta0.062
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traithypertension
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000537
Study accessionGCST001238
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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneC5orf23, NPR3
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-G
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.6
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta0.504
%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/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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneNPR3, C5orf23
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-A
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.3943
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta0.3486
%95 Ci[0.23-0.47] mmHg decrease
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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneNPR3, C5orf23
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-A
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.3703
P value0.0000003
Pvalue mlog6.52287874528033
P value text(East Asians)
Or beta0.5853
%95 Ci[0.36-0.81] mmHg decrease
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/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
Region5p13.3
Chromosome idchr5
Chromosome position32814922
Reported geneNPR3, C5orf23
Mapped geneNPR3 - LOC340113
Upstream gene id4883
Downstream gene id340113
SNP gene ids
Upstream gene distance23198
Downstream gene distance132521
SNP risk allelers1173771-A
SNPsrs1173771
Merged0
SNP id current1173771
Contextregulatory_region_variant
Intergenic1
Allele frequency0.3702
P value0.000003
Pvalue mlog5.52287874528033
P value text(East Asians)
Or beta0.4608
%95 Ci[0.27-0.65] mmHg decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitdiastolic blood pressure
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006336
Study accessionGCST003273