SNP Detail For rs1412444
1.Mapping Information
Human SNP ID rs1412444
Human chromosome chr10
Human SNP position 89243170
Pig chromosome chr14
Pig SNP position 110142348
2.Annotation Information
PubMed ID21378988
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21378988
StudyA genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
Disease/TraitCoronary heart disease
Initial sample8,424 European ancestry cases, 7,268 European ancestry controls, 6,996 South Asian ancestry cases, 7,794 South Asian ancestry controls
Replication sample18,049 European ancestry cases, 16,357 European ancestry controls, 3,359 South Asian ancestry cases, 2,828 South Asian ancestry controls
Region10q23.31
Chromosome idchr10
Chromosome position89243170
Reported geneLIPA
Mapped geneLIPA
Upstream gene id
Downstream gene id
SNP gene ids3988
Upstream gene distance
Downstream gene distance
SNP risk allelers1412444-T
SNPsrs1412444
Merged0
SNP id current1412444
Contextintron_variant
Intergenic0
Allele frequency0.42
P value0.0000000000003
Pvalue mlog12.5228787452803
P value text
Or beta1.09
%95 Ci[1.07-1.12]
PlatformIllumina [574919]
CNVN
Mapped traitcoronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST000999
PubMed ID21606135
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21606135
StudyA genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
Disease/TraitCoronary heart disease
Initial sample2,078 European ancestry cases, 2,953 European ancestry controls
Replication sample19,350 European ancestry cases, 35,408 European ancestry controls
Region10q23.31
Chromosome idchr10
Chromosome position89243170
Reported geneLIPA
Mapped geneLIPA
Upstream gene id
Downstream gene id
SNP gene ids3988
Upstream gene distance
Downstream gene distance
SNP risk allelers1412444-T
SNPsrs1412444
Merged0
SNP id current1412444
Contextintron_variant
Intergenic0
Allele frequency0.32
P value0.00000004
Pvalue mlog7.39794000867203
P value text
Or beta1.1
%95 Ci[1.07-1.14]
PlatformAffymetrix [608247]
CNVN
Mapped traitcoronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST001079
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
Region10q23.31
Chromosome idchr10
Chromosome position89243170
Reported geneLIPA
Mapped geneLIPA
Upstream gene id
Downstream gene id
SNP gene ids3988
Upstream gene distance
Downstream gene distance
SNP risk allelers1412444-T
SNPsrs1412444
Merged0
SNP id current1412444
Contextintron_variant
Intergenic0
Allele frequency0.369131
P value0.000000000005
Pvalue mlog11.3010299956639
P value text
Or beta1.07
%95 Ci[1.05- 1.09]
PlatformAffymetrix, Illumina [8600000] (imputed)
CNVN
Mapped traitcoronary artery disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000378
Study accessionGCST003116