Human SNP ID | rs846111 |
---|---|
Human chromosome | chr1 |
Human SNP position | 6219310 |
Pig chromosome | chr6 |
Pig SNP position | 62022605 |
PubMed ID | 19305408 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19305408 |
Study | Common variants at ten loci influence QT interval duration in the QTGEN Study. |
Disease/Trait | QT interval |
Initial sample | 13,685 European ancestry individuals |
Replication sample | 15,854 European ancestry individuals |
Region | 1p36.31 |
Chromosome id | chr1 |
Chromosome position | 6219310 |
Reported gene | NPHP4, CHDS, ACOT7, PLEKHG5, KLH21, RNF207 |
Mapped gene | RNF207 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 388591 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs846111-C |
SNPs | rs846111 |
Merged | 0 |
SNP id current | 846111 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.28 |
P value | 0.0000000000000001 |
Pvalue mlog | 16 |
P value text | |
Or beta | 1.75 |
%95 Ci | [1.41-2.09] msec increase |
Platform | Affymetrix, Illumina [up to 2543686] (imputed) |
CNV | N |
Mapped trait | QT interval |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004682 |
Study accession | GCST000363 |
PubMed ID | 19305409 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19305409 |
Study | Common variants at ten loci modulate the QT interval duration in the QTSCD Study. |
Disease/Trait | QT interval |
Initial sample | 15,842 European ancestry individuals |
Replication sample | up to 13,602 individuals |
Region | 1p36.31 |
Chromosome id | chr1 |
Chromosome position | 6219310 |
Reported gene | RNF207 |
Mapped gene | RNF207 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 388591 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs846111-C |
SNPs | rs846111 |
Merged | 0 |
SNP id current | 846111 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.29 |
P value | 0.0000000000000004 |
Pvalue mlog | 15.397940008672 |
P value text | |
Or beta | 1.49 |
%95 Ci | [1.00-1.98] ms increase |
Platform | Affymetrix, Illumina [2557000] (imputed) |
CNV | N |
Mapped trait | QT interval |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004682 |
Study accession | GCST000364 |
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 | 1p36.31 |
Chromosome id | chr1 |
Chromosome position | 6219310 |
Reported gene | RNF207 |
Mapped gene | RNF207 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 388591 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs846111-C |
SNPs | rs846111 |
Merged | 0 |
SNP id current | 846111 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.283 |
P value | 7E-40 |
Pvalue mlog | 39.1549019599857 |
P value text | |
Or beta | 1.73 |
%95 Ci | [1.48-1.98] unit increase |
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 |