SNP Detail For rs2131925
1.Mapping Information
Human SNP ID rs2131925
Human chromosome chr1
Human SNP position 62560271
Pig chromosome chr6
Pig SNP position 138141064
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
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneDOCK7, ANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.32
P value0.000000000000000003
Pvalue mlog17.5228787452803
P value text
Or beta1.59
%95 Ci[1.22-1.96] 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/TraitTriglycerides
Initial sample96,598 European ancestry individuals
Replication sampleNA
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneDOCK7, ANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.32
P value9E-43
Pvalue mlog42.0457574905606
P value text
Or beta4.94
%95 Ci[4.16-5.72] mg/dL decrease
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST000758
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
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneDOCK7, ANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.32
P value5E-41
Pvalue mlog40.3010299956639
P value text
Or beta2.6
%95 Ci[2.21-2.99] 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
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.34
P value3E-32
Pvalue mlog31.5228787452803
P value text
Or beta0.049
%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
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.34
P value4E-80
Pvalue mlog79.397940008672
P value text
Or beta0.075
%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
PubMed ID24097068
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24097068
StudyDiscovery and refinement of loci associated with lipid levels.
Disease/TraitTriglycerides
Initial sample94,595 European ancestry individuals
Replication sample93,982 European ancestry individuals
Region1p31.3
Chromosome idchr1
Chromosome position62560271
Reported geneANGPTL3
Mapped geneDOCK7
Upstream gene id
Downstream gene id
SNP gene ids85440
Upstream gene distance
Downstream gene distance
SNP risk allelers2131925-G
SNPsrs2131925
Merged0
SNP id current2131925
Contextintron_variant
Intergenic0
Allele frequency0.34
P value3E-74
Pvalue mlog73.5228787452803
P value text
Or beta0.066
%95 Ci[NR] mg/dL decrease
PlatformNR [NR] (imputed)
CNVN
Mapped traittriglyceride measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004530
Study accessionGCST002216