SNP Detail For rs2107595
1.Mapping Information
Human SNP ID rs2107595
Human chromosome chr7
Human SNP position 19009765
Pig chromosome chr9
Pig SNP position 97240327
2.Annotation Information
PubMed ID23041239
JournalLancet Neurol
Linkwww.ncbi.nlm.nih.gov/pubmed/23041239
StudyGenetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Disease/TraitStroke (ischemic)
Initial sample12,389 European ancestry cases, 62,004 European ancestry controls
Replication sample1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency0.16
P value0.000004
Pvalue mlog5.39794000867203
P value text(IS)
Or beta1.12
%95 Ci[1.07-1.17]
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitstroke
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000712
Study accessionGCST001706
PubMed ID23041239
JournalLancet Neurol
Linkwww.ncbi.nlm.nih.gov/pubmed/23041239
StudyGenetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Disease/TraitStroke (ischemic)
Initial sample12,389 European ancestry cases, 62,004 European ancestry controls
Replication sample1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency0.16
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text(LVD)
Or beta1.39
%95 Ci[1.27-1.53]
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitstroke
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000712
Study accessionGCST001706
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
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-?
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_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 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/TraitLarge artery stroke
Initial sample2,167 cases, 49,159 controls
Replication sampleNA
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency
P value0.000000000003
Pvalue mlog11.5228787452803
P value text
Or beta1.39
%95 Ci[1.27-1.52]
PlatformAffymetrix, Illumina [~ 2400000] (imputed)
CNVN
Mapped traitlarge artery stroke
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005524
Study accessionGCST002288
PubMed ID26343387
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26343387
StudyA comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Disease/TraitCoronary artery disease
Initial sample42,096 European ancestry cases, 361 African American cases, 758 Hispanic American cases, 12,658 South Asian ancestry cases, 1,802 Lebanese ancestry cases, 3,614 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls,
Replication sampleNA
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency0.20047
P value0.00000000008
Pvalue mlog10.096910013008
P value text
Or beta1.08
%95 Ci[1.05- 1.10]
PlatformAffymetrix, Illumina [8600000] (imputed)
CNVN
Mapped traitcoronary artery disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000378
Study accessionGCST003116
PubMed ID26390057
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26390057
StudyTrans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
Disease/TraitPulse pressure
Initial sample31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals
Replication sample87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals and 16,328 South Asian ancestry individuals
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency0.230914811571251
P value0.00000000004
Pvalue mlog10.397940008672
P value text
Or beta0.30704787
%95 Ci[0.22-0.4] mmHg increase
PlatformAffymetrix, Illumina, Perlegen [~ 2100000] (imputed)
CNVN
Mapped traitpulse pressure measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005763
Study accessionGCST003274
PubMed ID26708676
JournalLancet Neurol
Linkwww.ncbi.nlm.nih.gov/pubmed/26708676
StudyLoci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.
Disease/TraitIschemic stroke
Initial sample14,300 European ancestry cases, 1,609 African ancestry cases, 942 Hispanic cases, 26,690 European ancestry controls, 3,354 African ancestry controls, 2,429 Hispanic controls
Replication sample996 African ancestry cases, 219 East Asian ancestry cases, 17,334 European ancestry cases, 548 Hispanic cases, 2,385 South Asian ancestry cases, 5,811 African ancestry controls, 329 East Asian ancestry controls, 350,928 European ancestry controls, 686 His
Region7p21.1
Chromosome idchr7
Chromosome position19009765
Reported geneHDAC9
Mapped geneLOC105375175
Upstream gene id
Downstream gene id
SNP gene ids105375175
Upstream gene distance
Downstream gene distance
SNP risk allelers2107595-A
SNPsrs2107595
Merged0
SNP id current2107595
Contextregulatory_region_variant
Intergenic0
Allele frequency0.157
P value0.0000000009
Pvalue mlog9.04575749056067
P value text
Or beta1.09
%95 Ci[1.06-1.12]
PlatformIllumina [up to 15400000] (imputed)
CNVN
Mapped traitIschemic stroke
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0002140
Study accessionGCST003258