SNP Detail For rs2954029
1.Mapping Information
Human SNP ID rs2954029
Human chromosome chr8
Human SNP position 125478730
Pig chromosome chr4
Pig SNP position 14889269
2.Annotation Information
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitHDL cholesterol
Initial sample99,900 European ancestry individuals
Replication sampleNA
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.44
P value6E-19
Pvalue mlog18.2218487496163
P value text
Or beta0.61
%95 Ci[0.47-0.75] mg/dL increase
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traithigh density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004612
Study accessionGCST000755
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitLDL cholesterol
Initial sample95,454 European ancestry individuals
Replication sampleNA
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-A
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.46
P value3E-29
Pvalue mlog28.5228787452803
P value text
Or beta1.84
%95 Ci[1.51-2.17] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000759
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitTriglycerides
Initial sample96,598 European ancestry individuals
Replication sampleNA
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.47
P value3E-55
Pvalue mlog54.5228787452803
P value text
Or beta5.64
%95 Ci[4.88-6.4] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST000758
PubMed ID19060906
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19060906
StudyCommon variants at 30 loci contribute to polygenic dyslipidemia.
Disease/TraitTriglycerides
Initial sample19,840 European ancestry individuals
Replication sampleUp to 20,623 European ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.44
P value3E-19
Pvalue mlog18.5228787452803
P value text
Or beta0.11
%95 Ci[0.07-0.15] s.d. decrease
PlatformAffymetrix, Illumina [~ 2600000] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST000286
PubMed ID20864672
JournalArterioscler Thromb Vasc Biol
Linkwww.ncbi.nlm.nih.gov/pubmed/20864672
StudyGenetic variants influencing circulating lipid levels and risk of coronary artery disease.
Disease/TraitTriglycerides
Initial sampleup to 17,723 European ancestry individuals
Replication sampleup to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.46
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta0.04
%95 Ci[0.03-0.05] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2155369] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST000809
PubMed ID20686565
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20686565
StudyBiological, clinical and population relevance of 95 loci for blood lipids.
Disease/TraitCholesterol, total
Initial sample100,184 European ancestry individuals
Replication sampleNA
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-A
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.46
P value5E-36
Pvalue mlog35.3010299956639
P value text
Or beta2.3
%95 Ci[1.93-2.67] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST000760
PubMed ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitTriglycerides
Initial sample8,993 Japanese ancestry individuals
Replication sampleNA
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.53
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta0.076
%95 Ci[0.047-0.105] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST000584
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitHDL cholesterol
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.47
P value3E-29
Pvalue mlog28.5228787452803
P value text
Or beta0.04
%95 Ci[NR] unit increase
PlatformNR [NR] (imputed)
CNVN
Mapped traithigh density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004612
Study accessionGCST002223
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitLDL cholesterol
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.47
P value2E-50
Pvalue mlog49.698970004336
P value text
Or beta0.056
%95 Ci[NR] unit decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST002222
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitCholesterol, total
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.47
P value2E-65
Pvalue mlog64.698970004336
P value text
Or beta0.062
%95 Ci[NR] unit decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002221
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitTriglycerides
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-T
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.47
P value1E-107
Pvalue mlog107
P value text
Or beta0.076
%95 Ci[NR] mg/dL decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST002216
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
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-A
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.551395
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta1.04
%95 Ci[1.03- 1.06]
PlatformAffymetrix, Illumina [8600000] (imputed)
CNVN
Mapped traitcoronary artery disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000378
Study accessionGCST003116
PubMed ID26582766
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26582766
StudyGenetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.
Disease/TraitTriglycerides
Initial sample8,344 Han Chinese ancestry individuals
Replication sample14,739 Han Chinese ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-A
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.41
P value2E-20
Pvalue mlog19.698970004336
P value text
Or beta0.023
%95 Ci[0.019-0.027] unit increase
PlatformAffymetrix, Illumina [2573667] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST003217
PubMed ID26582766
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26582766
StudyGenetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.
Disease/TraitCholesterol, total
Initial sample8,344 Han Chinese ancestry individuals
Replication sample14,739 Han Chinese ancestry individuals
Region8q24.13
Chromosome idchr8
Chromosome position125478730
Reported geneTRIB1
Mapped geneLOC105375745
Upstream gene id
Downstream gene id
SNP gene ids105375745
Upstream gene distance
Downstream gene distance
SNP risk allelers2954029-A
SNPsrs2954029
Merged0
SNP id current2954029
Contextintron_variant
Intergenic0
Allele frequency0.41
P value0.00000000001
Pvalue mlog11
P value text
Or beta2.218
%95 Ci[1.58-2.85] unit increase
PlatformAffymetrix, Illumina [2573667] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST003214