SNP Detail For rs1122608
1.Mapping Information
Human SNP ID rs1122608
Human chromosome chr19
Human SNP position 11052925
Pig chromosome chr2
Pig SNP position 70236743
2.Annotation Information
PubMed ID19198609
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19198609
StudyGenome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Disease/TraitMyocardial infarction (early onset)
Initial sample2,967 European ancestry cases, 3,075 European ancestry controls
Replication sample9,746 European ancestry cases, 9,746 European ancestry controls
Region19p13.2
Chromosome idchr19
Chromosome position11052925
Reported geneLDLR
Mapped geneSMARCA4
Upstream gene id
Downstream gene id
SNP gene ids6597
Upstream gene distance
Downstream gene distance
SNP risk allelers1122608-G
SNPsrs1122608
Merged0
SNP id current1122608
Contextintron_variant
Intergenic0
Allele frequency0.75
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta1.15
%95 Ci[1.10-1.20]
PlatformAffymetrix [~ 2500000] (imputed)
CNVN
Mapped traitmyocardial infarction
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000612
Study accessionGCST000340
PubMed ID21378990
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21378990
StudyLarge-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Disease/TraitCoronary heart disease
Initial sample22,233 European ancestry cases, 64,762 European ancestry controls
Replication sample56,682 European ancestry cases and controls
Region19p13.2
Chromosome idchr19
Chromosome position11052925
Reported geneLDLR
Mapped geneSMARCA4
Upstream gene id
Downstream gene id
SNP gene ids6597
Upstream gene distance
Downstream gene distance
SNP risk allelers1122608-G
SNPsrs1122608
Merged0
SNP id current1122608
Contextintron_variant
Intergenic0
Allele frequency0.77
P value0.000000001
Pvalue mlog9
P value text
Or beta1.14
%95 Ci[1.09-1.18]
PlatformAffymetrix, Illumina [~ 2300000] (imputed)
CNVN
Mapped traitcoronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST000998
PubMed ID24262325
JournalStroke
Linkwww.ncbi.nlm.nih.gov/pubmed/24262325
StudyShared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Disease/TraitCoronary artery disease or ischemic stroke
Initial sample12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position11052925
Reported geneLDLR, SMARCA4
Mapped geneSMARCA4
Upstream gene id
Downstream gene id
SNP gene ids6597
Upstream gene distance
Downstream gene distance
SNP risk allelers1122608-?
SNPsrs1122608
Merged0
SNP id current1122608
Contextintron_variant
Intergenic0
Allele frequency
P value0.000000000003
Pvalue mlog11.5228787452803
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [up to 2500000] (imputed)
CNVN
Mapped traitstroke, coronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000712, http://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST002287
PubMed ID24262325
JournalStroke
Linkwww.ncbi.nlm.nih.gov/pubmed/24262325
StudyShared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Disease/TraitCoronary artery disease or large artery stroke
Initial sample2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position11052925
Reported geneLDLR, SMARCA4
Mapped geneSMARCA4
Upstream gene id
Downstream gene id
SNP gene ids6597
Upstream gene distance
Downstream gene distance
SNP risk allelers1122608-?
SNPsrs1122608
Merged0
SNP id current1122608
Contextintron_variant
Intergenic0
Allele frequency
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [up to 2500000] (imputed)
CNVN
Mapped traitlarge artery stroke, coronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005524, http://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST002290
PubMed ID24262325
JournalStroke
Linkwww.ncbi.nlm.nih.gov/pubmed/24262325
StudyShared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Disease/TraitCoronary artery disease
Initial sample33,398 cases, 75,726 controls
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position11052925
Reported geneLDLR, SMARCA4
Mapped geneSMARCA4
Upstream gene id
Downstream gene id
SNP gene ids6597
Upstream gene distance
Downstream gene distance
SNP risk allelers1122608-T
SNPsrs1122608
Merged0
SNP id current1122608
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000000003
Pvalue mlog10.5228787452803
P value text
Or beta1.1364
%95 Ci[1.09-1.18]
PlatformIllumina [575000] (imputed)
CNVN
Mapped traitcoronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST002289