SNP Detail For rs515135
1.Mapping Information
Human SNP ID rs515135
Human chromosome chr2
Human SNP position 21063185
Pig chromosome chr3
Pig SNP position 125119276
2.Annotation Information
PubMed ID19060906
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19060906
StudyCommon variants at 30 loci contribute to polygenic dyslipidemia.
Disease/TraitLDL cholesterol
Initial sample19,840 European ancestry individuals
Replication sampleUp to 20,623 European ancestry individuals
Region2p24.1
Chromosome idchr2
Chromosome position21063185
Reported geneAPOB
Mapped geneAPOB - LOC105374316
Upstream gene id338
Downstream gene id105374316
SNP gene ids
Upstream gene distance19112
Downstream gene distance7755
SNP risk allelers515135-T
SNPsrs515135
Merged0
SNP id current515135
Contextintergenic_variant
Intergenic1
Allele frequency0.2
P value5E-29
Pvalue mlog28.3010299956639
P value text
Or beta0.16
%95 Ci[0.12-0.20] s.d. decrease
PlatformAffymetrix, Illumina [~ 2600000] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000287
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/TraitLDL cholesterol
Initial sampleup to 17,723 European ancestry individuals
Replication sampleup to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals
Region2p24.1
Chromosome idchr2
Chromosome position21063185
Reported geneAPOB
Mapped geneAPOB - LOC105374316
Upstream gene id338
Downstream gene id105374316
SNP gene ids
Upstream gene distance19112
Downstream gene distance7755
SNP risk allelers515135-A
SNPsrs515135
Merged0
SNP id current515135
Contextintergenic_variant
Intergenic1
Allele frequency0.19
P value2E-20
Pvalue mlog19.698970004336
P value text
Or beta0.04
%95 Ci[0.03-0.05] unit decrease
PlatformAffymetrix, Illumina, Perlegen [2155369] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000807
PubMed ID25961943
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25961943
StudyThe impact of low-frequency and rare variants on lipid levels.
Disease/TraitLDL cholesterol
Initial sampleup 62,166 European ancestry individuals
Replication sampleNA
Region2p24.1
Chromosome idchr2
Chromosome position21063185
Reported geneAPOB
Mapped geneAPOB - LOC105374316
Upstream gene id338
Downstream gene id105374316
SNP gene ids
Upstream gene distance19112
Downstream gene distance7755
SNP risk allelers515135-C
SNPsrs515135
Merged0
SNP id current515135
Contextintergenic_variant
Intergenic1
Allele frequency0.83
P value2E-63
Pvalue mlog62.698970004336
P value text
Or beta0.135
%95 Ci[0.12-0.15] s.d. increase
PlatformAffymetrix, Illumina, Perlegen [up to 9657952] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST002898