SNP Detail For rs2228671
1.Mapping Information
Human SNP ID rs2228671
Human chromosome chr19
Human SNP position 11100236
Pig chromosome chr2
Pig SNP position 70196060
2.Annotation Information
PubMed ID19060911
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19060911
StudyLoci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Disease/TraitLDL cholesterol
Initial sample17,083 European ancestry individuals, 714 Orcadian individuals
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position11100236
Reported geneLDLR
Mapped geneLDLR
Upstream gene id
Downstream gene id
SNP gene ids3949
Upstream gene distance
Downstream gene distance
SNP risk allelers2228671-G
SNPsrs2228671
Merged0
SNP id current2228671
Contextmissense_variant
Intergenic0
Allele frequency0.88
P value0.00000000000004
Pvalue mlog13.397940008672
P value text
Or beta0.14
%95 Ci[NR] s.d. increase
PlatformAffymetrix, Illumina [up to 600000]
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000282
PubMed ID19060911
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19060911
StudyLoci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Disease/TraitCholesterol, total
Initial sample21,848 European ancestry individuals, 714 Orcadian individuals
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position11100236
Reported geneLDLR
Mapped geneLDLR
Upstream gene id
Downstream gene id
SNP gene ids3949
Upstream gene distance
Downstream gene distance
SNP risk allelers2228671-G
SNPsrs2228671
Merged0
SNP id current2228671
Contextmissense_variant
Intergenic0
Allele frequency0.88
P value9E-24
Pvalue mlog23.0457574905606
P value text
Or beta0.16
%95 Ci[NR] s.d. increase
PlatformAffymetrix, Illumina [up to 600000]
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST000285