Human SNP ID | rs1122608 |
---|---|
Human chromosome | chr19 |
Human SNP position | 11052925 |
Pig chromosome | chr2 |
Pig SNP position | 70236743 |
PubMed ID | 19198609 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19198609 |
Study | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. |
Disease/Trait | Myocardial infarction (early onset) |
Initial sample | 2,967 European ancestry cases, 3,075 European ancestry controls |
Replication sample | 9,746 European ancestry cases, 9,746 European ancestry controls |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 11052925 |
Reported gene | LDLR |
Mapped gene | SMARCA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6597 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1122608-G |
SNPs | rs1122608 |
Merged | 0 |
SNP id current | 1122608 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.75 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | |
Or beta | 1.15 |
%95 Ci | [1.10-1.20] |
Platform | Affymetrix [~ 2500000] (imputed) |
CNV | N |
Mapped trait | myocardial infarction |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000612 |
Study accession | GCST000340 |
PubMed ID | 21378990 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21378990 |
Study | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. |
Disease/Trait | Coronary heart disease |
Initial sample | 22,233 European ancestry cases, 64,762 European ancestry controls |
Replication sample | 56,682 European ancestry cases and controls |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 11052925 |
Reported gene | LDLR |
Mapped gene | SMARCA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6597 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1122608-G |
SNPs | rs1122608 |
Merged | 0 |
SNP id current | 1122608 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.77 |
P value | 0.000000001 |
Pvalue mlog | 9 |
P value text | |
Or beta | 1.14 |
%95 Ci | [1.09-1.18] |
Platform | Affymetrix, Illumina [~ 2300000] (imputed) |
CNV | N |
Mapped trait | coronary heart disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001645 |
Study accession | GCST000998 |
PubMed ID | 24262325 |
Journal | Stroke |
Link | www.ncbi.nlm.nih.gov/pubmed/24262325 |
Study | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. |
Disease/Trait | Coronary artery disease or ischemic stroke |
Initial sample | 12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 11052925 |
Reported gene | LDLR, SMARCA4 |
Mapped gene | SMARCA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6597 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1122608-? |
SNPs | rs1122608 |
Merged | 0 |
SNP id current | 1122608 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.000000000003 |
Pvalue mlog | 11.5228787452803 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix, Illumina [up to 2500000] (imputed) |
CNV | N |
Mapped trait | stroke, coronary heart disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000712, http://www.ebi.ac.uk/efo/EFO_0001645 |
Study accession | GCST002287 |
PubMed ID | 24262325 |
Journal | Stroke |
Link | www.ncbi.nlm.nih.gov/pubmed/24262325 |
Study | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. |
Disease/Trait | Coronary artery disease or large artery stroke |
Initial sample | 2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 11052925 |
Reported gene | LDLR, SMARCA4 |
Mapped gene | SMARCA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6597 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1122608-? |
SNPs | rs1122608 |
Merged | 0 |
SNP id current | 1122608 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix, Illumina [up to 2500000] (imputed) |
CNV | N |
Mapped trait | large artery stroke, coronary heart disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005524, http://www.ebi.ac.uk/efo/EFO_0001645 |
Study accession | GCST002290 |
PubMed ID | 24262325 |
Journal | Stroke |
Link | www.ncbi.nlm.nih.gov/pubmed/24262325 |
Study | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. |
Disease/Trait | Coronary artery disease |
Initial sample | 33,398 cases, 75,726 controls |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 11052925 |
Reported gene | LDLR, SMARCA4 |
Mapped gene | SMARCA4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6597 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1122608-T |
SNPs | rs1122608 |
Merged | 0 |
SNP id current | 1122608 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | |
Or beta | 1.1364 |
%95 Ci | [1.09-1.18] |
Platform | Illumina [575000] (imputed) |
CNV | N |
Mapped trait | coronary heart disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001645 |
Study accession | GCST002289 |