SNP Detail For rs7412
1.Mapping Information
Human SNP ID rs7412
Human chromosome chr19
Human SNP position 44908822
Pig chromosome chr6
Pig SNP position 47271642
2.Annotation Information
PubMed ID22286219
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22286219
StudyGenome-wide association study identifies multiple loci influencing human serum metabolite levels.
Disease/TraitLipid metabolism phenotypes
Initial sample8,330 European ancestry individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOC2, APOE, APOC1
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-?
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value3E-58
Pvalue mlog57.5228787452803
P value text(L-LDL-FC)
Or beta0.75
%95 Ci[0.65-0.85] unit decrease
PlatformIllumina [~ 7700000] (imputed)
CNVN
Mapped traitlipid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004529
Study accessionGCST001392
PubMed ID22331829
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22331829
StudyGenetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
Disease/TraitResponse to statin therapy (LDL-C)
Initial sample6,989 European ancestry individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-?
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value2E-47
Pvalue mlog46.698970004336
P value text(baseline LDL-C)
Or beta6.2
%95 Ci[5.42-6.98] mg/dL decrease
PlatformIllumina [814418]
CNVN
Mapped traitresponse to statin
Mapped trait URIhttp://purl.obolibrary.org/obo/GO_0036273
Study accessionGCST001408
PubMed ID23067351
JournalClin Transl Sci
Linkwww.ncbi.nlm.nih.gov/pubmed/23067351
StudyHigh density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
Disease/TraitLDL cholesterol
Initial sample1,249 African American individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-?
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequency0.1
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta12.3
%95 Ci[8.4-16.3] mg/dL decrease
PlatformIllumina [910341]
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST001645
PubMed ID24023260
JournalJ Lipid Res
Linkwww.ncbi.nlm.nih.gov/pubmed/24023260
StudyGenetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
Disease/TraitLipid traits
Initial sample1,782 Filipino ancestry mothers
Replication sample1,719 Filipino ancestry offsprings
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-T
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequency0.12
P value3E-53
Pvalue mlog52.5228787452803
P value text(LDL-C)
Or beta0.48
%95 Ci[0.42-0.54] unit decrease
PlatformAffymetrix [~ 3700000] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST002174
PubMed ID24023260
JournalJ Lipid Res
Linkwww.ncbi.nlm.nih.gov/pubmed/24023260
StudyGenetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
Disease/TraitLipid traits
Initial sample1,782 Filipino ancestry mothers
Replication sample1,719 Filipino ancestry offsprings
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-T
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequency0.12
P value2E-30
Pvalue mlog29.698970004336
P value text(TC)
Or beta0.09
%95 Ci[0.070-0.110] unit decrease
PlatformAffymetrix [~ 3700000] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002174
PubMed ID25961943
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25961943
StudyThe impact of low-frequency and rare variants on lipid levels.
Disease/TraitCholesterol, total
Initial sampleup to 62,166 European ancestry individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44908822
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers7412-C
SNPsrs7412
Merged0
SNP id current7412
Contextmissense_variant
Intergenic0
Allele frequency0.93
P value8E-239
Pvalue mlog238.096910013008
P value text
Or beta0.413
%95 Ci[0.39-0.44] s.d. increase
PlatformAffymetrix, Illumina, Perlegen [up to 9657952] (imputed)
CNVN
Mapped traittotal cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004574
Study accessionGCST002896