SNP Detail For rs2902940
1.Mapping Information
Human SNP ID rs2902940
Human chromosome chr20
Human SNP position 40462847
Pig chromosome chr17
Pig SNP position 48482195
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
Region20q12
Chromosome idchr20
Chromosome position40462847
Reported geneMAFB
Mapped geneLOC105372618
Upstream gene id
Downstream gene id
SNP gene ids105372618
Upstream gene distance
Downstream gene distance
SNP risk allelers2902940-G
SNPsrs2902940
Merged0
SNP id current2902940
Contextintergenic_variant
Intergenic0
Allele frequency0.33
P value0.00000001
Pvalue mlog8
P value text
Or beta0.98
%95 Ci[0.61-1.35] 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
Region20q12
Chromosome idchr20
Chromosome position40462847
Reported geneMAFB
Mapped geneLOC105372618
Upstream gene id
Downstream gene id
SNP gene ids105372618
Upstream gene distance
Downstream gene distance
SNP risk allelers2902940-G
SNPsrs2902940
Merged0
SNP id current2902940
Contextintergenic_variant
Intergenic0
Allele frequency0.29
P value0.00000000006
Pvalue mlog10.2218487496163
P value text
Or beta1.38
%95 Ci[0.97-1.79] mg/dL decrease
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
Region20q12
Chromosome idchr20
Chromosome position40462847
Reported geneMAFB
Mapped geneLOC105372618
Upstream gene id
Downstream gene id
SNP gene ids105372618
Upstream gene distance
Downstream gene distance
SNP risk allelers2902940-G
SNPsrs2902940
Merged0
SNP id current2902940
Contextintergenic_variant
Intergenic0
Allele frequency0.3
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta0.027
%95 Ci[NR] unit decrease
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
Region20q12
Chromosome idchr20
Chromosome position40462847
Reported geneMAFB
Mapped geneLOC105372618
Upstream gene id
Downstream gene id
SNP gene ids105372618
Upstream gene distance
Downstream gene distance
SNP risk allelers2902940-G
SNPsrs2902940
Merged0
SNP id current2902940
Contextintergenic_variant
Intergenic0
Allele frequency0.3
P value0.0000000009
Pvalue mlog9.04575749056067
P value text
Or beta0.024
%95 Ci[NR] unit decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002221