Human SNP ID | rs11153730 |
---|---|
Human chromosome | chr6 |
Human SNP position | 118346359 |
Pig chromosome | chr1 |
Pig SNP position | 48853839 |
PubMed ID | 19587794 |
---|---|
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/19587794 |
Study | Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. |
Disease/Trait | QT interval |
Initial sample | 3,558 European ancestry individuals |
Replication sample | 29,527 European ancestry individuals |
Region | 6q22.31 |
Chromosome id | chr6 |
Chromosome position | 118346359 |
Reported gene | C6orf204, SLC35F1, PLN |
Mapped gene | LOC105377968 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105377968 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11153730-C |
SNPs | rs11153730 |
Merged | 0 |
SNP id current | 11153730 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 2E-29 |
Pvalue mlog | 28.698970004336 |
P value text | |
Or beta | 0.09 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix, Illumina [~ 2399142] (imputed) |
CNV | N |
Mapped trait | QT interval |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004682 |
Study accession | GCST000444 |
PubMed ID | 24952745 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24952745 |
Study | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. |
Disease/Trait | QT interval |
Initial sample | Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals |
Replication sample | Up to 33,316 European ancestry individuals |
Region | 6q22.31 |
Chromosome id | chr6 |
Chromosome position | 118346359 |
Reported gene | SLC35F1, PLN |
Mapped gene | LOC105377968 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105377968 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11153730-T |
SNPs | rs11153730 |
Merged | 0 |
SNP id current | 11153730 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.502 |
P value | 2E-67 |
Pvalue mlog | 66.698970004336 |
P value text | |
Or beta | 1.65 |
%95 Ci | [1.45-1.85] unit decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | QT interval |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004682 |
Study accession | GCST002500 |
PubMed ID | 23583979 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23583979 |
Study | Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. |
Disease/Trait | Heart rate |
Initial sample | 85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals |
Replication sample | 88,823 European ancestry individuals |
Region | 6q22.31 |
Chromosome id | chr6 |
Chromosome position | 118346359 |
Reported gene | SLC35F1 |
Mapped gene | LOC105377968 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105377968 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11153730-T |
SNPs | rs11153730 |
Merged | 0 |
SNP id current | 11153730 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.509 |
P value | 8E-21 |
Pvalue mlog | 20.096910013008 |
P value text | |
Or beta | 0.381 |
%95 Ci | [0.29-0.47] unit increase |
Platform | Affymetrix, Illumina [2516789] (imputed) |
CNV | N |
Mapped trait | heart rate |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004326 |
Study accession | GCST001969 |