SNP Detail For rs2072183
1.Mapping Information
Human SNP ID rs2072183
Human chromosome chr7
Human SNP position 44539581
Pig chromosome chr18
Pig SNP position 55632137
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/TraitLDL cholesterol
Initial sample95,454 European ancestry individuals
Replication sampleNA
Region7p13
Chromosome idchr7
Chromosome position44539581
Reported geneNPC1L1
Mapped geneNPC1L1
Upstream gene id
Downstream gene id
SNP gene ids29881
Upstream gene distance
Downstream gene distance
SNP risk allelers2072183-A
SNPsrs2072183
Merged0
SNP id current2072183
Contextsynonymous_variant
Intergenic0
Allele frequency0.43
P value0.00000000004
Pvalue mlog10.397940008672
P value text
Or beta1.17
%95 Ci[0.8-1.54] 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/TraitCholesterol, total
Initial sample100,184 European ancestry individuals
Replication sampleNA
Region7p13
Chromosome idchr7
Chromosome position44539581
Reported geneNPC1L1
Mapped geneNPC1L1
Upstream gene id
Downstream gene id
SNP gene ids29881
Upstream gene distance
Downstream gene distance
SNP risk allelers2072183-C
SNPsrs2072183
Merged0
SNP id current2072183
Contextsynonymous_variant
Intergenic0
Allele frequency0.25
P value0.00000000003
Pvalue mlog10.5228787452803
P value text
Or beta2.01
%95 Ci[1.44-2.58] mg/dL increase
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST000760
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
Region7p13
Chromosome idchr7
Chromosome position44539581
Reported geneNPC1L1
Mapped geneNPC1L1
Upstream gene id
Downstream gene id
SNP gene ids29881
Upstream gene distance
Downstream gene distance
SNP risk allelers2072183-C
SNPsrs2072183
Merged0
SNP id current2072183
Contextsynonymous_variant
Intergenic0
Allele frequency0.29
P value0.0000000000000007
Pvalue mlog15.1549019599857
P value text
Or beta0.039
%95 Ci[NR] unit increase
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
Region7p13
Chromosome idchr7
Chromosome position44539581
Reported geneNPC1L1
Mapped geneNPC1L1
Upstream gene id
Downstream gene id
SNP gene ids29881
Upstream gene distance
Downstream gene distance
SNP risk allelers2072183-C
SNPsrs2072183
Merged0
SNP id current2072183
Contextsynonymous_variant
Intergenic0
Allele frequency0.29
P value0.000000000000004
Pvalue mlog14.397940008672
P value text
Or beta0.036
%95 Ci[NR] unit increase
PlatformNR [NR] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002221