Human SNP ID | rs2384550 |
---|---|
Human chromosome | chr12 |
Human SNP position | 114914926 |
Pig chromosome | chr14 |
Pig SNP position | 39800406 |
PubMed ID | 21909110 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21909110 |
Study | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. |
Disease/Trait | Blood pressure |
Initial sample | 74,064 European ancestry individuals |
Replication sample | 48,607 European ancestry individuals |
Region | 12q24.21 |
Chromosome id | chr12 |
Chromosome position | 114914926 |
Reported gene | TBX5, TBX3 |
Mapped gene | LOC105369999 - LOC102723639 |
Upstream gene id | 105369999 |
Downstream gene id | 102723639 |
SNP gene ids | |
Upstream gene distance | 179138 |
Downstream gene distance | 98261 |
SNP risk allele | rs2384550-G |
SNPs | rs2384550 |
Merged | 0 |
SNP id current | 2384550 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.66 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | (Mean Arterial Pressure) |
Or beta | 0.227 |
%95 Ci | [0.13-0.32] mmHg increase |
Platform | Affymetrix, Illumina, Perlegen [NR] (imputed) |
CNV | N |
Mapped trait | mean arterial pressure |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006340 |
Study accession | GCST001236 |
PubMed ID | 19430479 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19430479 |
Study | Genome-wide association study of blood pressure and hypertension. |
Disease/Trait | Diastolic blood pressure |
Initial sample | 29,136 European ancestry individuals |
Replication sample | 34,433 European ancestry individuals |
Region | 12q24.21 |
Chromosome id | chr12 |
Chromosome position | 114914926 |
Reported gene | TBX5, TBX3 |
Mapped gene | LOC105369999 - LOC102723639 |
Upstream gene id | 105369999 |
Downstream gene id | 102723639 |
SNP gene ids | |
Upstream gene distance | 179138 |
Downstream gene distance | 98261 |
SNP risk allele | rs2384550-A |
SNPs | rs2384550 |
Merged | 0 |
SNP id current | 2384550 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 0.00000004 |
Pvalue mlog | 7.39794000867203 |
P value text | |
Or beta | 0.35 |
%95 Ci | [0.23-0.47] mm Hg decrease |
Platform | Affymetrix, Illumina [2533153] (imputed) |
CNV | N |
Mapped trait | diastolic blood pressure |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006336 |
Study accession | GCST000396 |