SNP Detail For rs2259816
1.Mapping Information
Human SNP ID rs2259816
Human chromosome chr12
Human SNP position 120997784
Pig chromosome chr14
Pig SNP position 43397758
2.Annotation Information
PubMed ID19198612
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19198612
StudyNew susceptibility locus for coronary artery disease on chromosome 3q22.3.
Disease/TraitCoronary heart disease
Initial sample1,222 European ancestry cases, 1,298 European ancestry controls
Replication sample18,185 European ancestry cases, 20,068 European ancestry controls
Region12q24.31
Chromosome idchr12
Chromosome position120997784
Reported geneC12orf43, HNF1A
Mapped geneHNF1A
Upstream gene id
Downstream gene id
SNP gene ids6927
Upstream gene distance
Downstream gene distance
SNP risk allelers2259816-T
SNPsrs2259816
Merged0
SNP id current2259816
Contextsynonymous_variant
Intergenic0
Allele frequency0.36
P value0.0000005
Pvalue mlog6.30102999566398
P value text
Or beta1.08
%95 Ci[1.05-1.11]
PlatformAffymetrix [567119]
CNVN
Mapped traitcoronary heart disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001645
Study accessionGCST000338
PubMed ID22939635
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22939635
StudyGenome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
Disease/TraitC-reactive protein
Initial sample8,280 African American female individuals, 3,548 Hispanic female individuals
Replication sample3,787 African American female individuals, 3,548 Hispanic female individuals, 5,656 European ancestry individuals
Region12q24.31
Chromosome idchr12
Chromosome position120997784
Reported geneOASL, C12orf43, HNF1A
Mapped geneHNF1A
Upstream gene id
Downstream gene id
SNP gene ids6927
Upstream gene distance
Downstream gene distance
SNP risk allelers2259816-T
SNPsrs2259816
Merged0
SNP id current2259816
Contextsynonymous_variant
Intergenic0
Allele frequency0.379
P value0.0000000003
Pvalue mlog9.52287874528033
P value text(HA women)
Or beta0.141
%95 Ci[0.092-0.190] unit increase
PlatformAffymetrix [up to 2203609] (imputed)
CNVN
Mapped traitC-reactive protein measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004458
Study accessionGCST001650