Human SNP ID | rs7412 |
---|---|
Human chromosome | chr19 |
Human SNP position | 44908822 |
Pig chromosome | chr6 |
Pig SNP position | 47271642 |
PubMed ID | 22286219 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22286219 |
Study | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. |
Disease/Trait | Lipid metabolism phenotypes |
Initial sample | 8,330 European ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOC2, APOE, APOC1 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-? |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 3E-58 |
Pvalue mlog | 57.5228787452803 |
P value text | (L-LDL-FC) |
Or beta | 0.75 |
%95 Ci | [0.65-0.85] unit decrease |
Platform | Illumina [~ 7700000] (imputed) |
CNV | N |
Mapped trait | lipid measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
Study accession | GCST001392 |
PubMed ID | 22331829 |
Journal | Circ Cardiovasc Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22331829 |
Study | Genetic 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/Trait | Response to statin therapy (LDL-C) |
Initial sample | 6,989 European ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-? |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 2E-47 |
Pvalue mlog | 46.698970004336 |
P value text | (baseline LDL-C) |
Or beta | 6.2 |
%95 Ci | [5.42-6.98] mg/dL decrease |
Platform | Illumina [814418] |
CNV | N |
Mapped trait | response to statin |
Mapped trait URI | http://purl.obolibrary.org/obo/GO_0036273 |
Study accession | GCST001408 |
PubMed ID | 23067351 |
Journal | Clin Transl Sci |
Link | www.ncbi.nlm.nih.gov/pubmed/23067351 |
Study | High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. |
Disease/Trait | LDL cholesterol |
Initial sample | 1,249 African American individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-? |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.1 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | |
Or beta | 12.3 |
%95 Ci | [8.4-16.3] mg/dL decrease |
Platform | Illumina [910341] |
CNV | N |
Mapped trait | low density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004611 |
Study accession | GCST001645 |
PubMed ID | 24023260 |
Journal | J Lipid Res |
Link | www.ncbi.nlm.nih.gov/pubmed/24023260 |
Study | Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. |
Disease/Trait | Lipid traits |
Initial sample | 1,782 Filipino ancestry mothers |
Replication sample | 1,719 Filipino ancestry offsprings |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-T |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.12 |
P value | 3E-53 |
Pvalue mlog | 52.5228787452803 |
P value text | (LDL-C) |
Or beta | 0.48 |
%95 Ci | [0.42-0.54] unit decrease |
Platform | Affymetrix [~ 3700000] (imputed) |
CNV | N |
Mapped trait | low density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004611 |
Study accession | GCST002174 |
PubMed ID | 24023260 |
Journal | J Lipid Res |
Link | www.ncbi.nlm.nih.gov/pubmed/24023260 |
Study | Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. |
Disease/Trait | Lipid traits |
Initial sample | 1,782 Filipino ancestry mothers |
Replication sample | 1,719 Filipino ancestry offsprings |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-T |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.12 |
P value | 2E-30 |
Pvalue mlog | 29.698970004336 |
P value text | (TC) |
Or beta | 0.09 |
%95 Ci | [0.070-0.110] unit decrease |
Platform | Affymetrix [~ 3700000] (imputed) |
CNV | N |
Mapped trait | total cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
Study accession | GCST002174 |
PubMed ID | 25961943 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25961943 |
Study | The impact of low-frequency and rare variants on lipid levels. |
Disease/Trait | Cholesterol, total |
Initial sample | up to 62,166 European ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908822 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7412-C |
SNPs | rs7412 |
Merged | 0 |
SNP id current | 7412 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.93 |
P value | 8E-239 |
Pvalue mlog | 238.096910013008 |
P value text | |
Or beta | 0.413 |
%95 Ci | [0.39-0.44] s.d. increase |
Platform | Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) |
CNV | N |
Mapped trait | total cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
Study accession | GCST002896 |