Human SNP ID | rs1367117 |
---|---|
Human chromosome | chr2 |
Human SNP position | 21041028 |
Pig chromosome | chr3 |
Pig SNP position | 125231047 |
PubMed ID | 20686565 |
---|---|
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/20686565 |
Study | Biological, clinical and population relevance of 95 loci for blood lipids. |
Disease/Trait | LDL cholesterol |
Initial sample | 95,454 European ancestry individuals |
Replication sample | NA |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-A |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.3 |
P value | 4E-114 |
Pvalue mlog | 113.397940008672 |
P value text | |
Or beta | 4.05 |
%95 Ci | [3.68-4.42] mg/dL increase |
Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
CNV | N |
Mapped trait | low density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004611 |
Study accession | GCST000759 |
PubMed ID | 20686565 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/20686565 |
Study | Biological, clinical and population relevance of 95 loci for blood lipids. |
Disease/Trait | Cholesterol, total |
Initial sample | 100,184 European ancestry individuals |
Replication sample | NA |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-A |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.3 |
P value | 4E-96 |
Pvalue mlog | 95.397940008672 |
P value text | |
Or beta | 4.16 |
%95 Ci | [3.73-4.59] mg/dL increase |
Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
CNV | N |
Mapped trait | total cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
Study accession | GCST000760 |
PubMed ID | 19936222 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
Disease/Trait | Lipid metabolism phenotypes |
Initial sample | Up to 17,296 European ancestry female individuals |
Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-? |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000000000002 |
Pvalue mlog | 16.698970004336 |
P value text | (LDL-C.assay, fasting) |
Or beta | 3.916 |
%95 Ci | [NR] unit increase |
Platform | Illumina [335603] |
CNV | N |
Mapped trait | lipid measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
Study accession | GCST000533 |
PubMed ID | 19936222 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19936222 |
Study | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
Disease/Trait | Lipid metabolism phenotypes |
Initial sample | Up to 17,296 European ancestry female individuals |
Replication sample | Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-? |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 6E-25 |
Pvalue mlog | 24.2218487496163 |
P value text | (LDL-C.assay, whole) |
Or beta | 4.027 |
%95 Ci | [NR] unit increase |
Platform | Illumina [335603] |
CNV | N |
Mapped trait | lipid measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
Study accession | GCST000533 |
PubMed ID | 24097068 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24097068 |
Study | Discovery and refinement of loci associated with lipid levels. |
Disease/Trait | LDL cholesterol |
Initial sample | 94,595 European ancestry individuals |
Replication sample | 93,982 European ancestry individuals |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-A |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 1E-182 |
Pvalue mlog | 182 |
P value text | |
Or beta | 0.119 |
%95 Ci | [NR] unit increase |
Platform | NR [NR] (imputed) |
CNV | N |
Mapped trait | low density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004611 |
Study accession | GCST002222 |
PubMed ID | 24097068 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24097068 |
Study | Discovery and refinement of loci associated with lipid levels. |
Disease/Trait | Cholesterol, total |
Initial sample | 94,595 European ancestry individuals |
Replication sample | 93,982 European ancestry individuals |
Region | 2p24.1 |
Chromosome id | chr2 |
Chromosome position | 21041028 |
Reported gene | APOB |
Mapped gene | APOB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 338 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1367117-A |
SNPs | rs1367117 |
Merged | 0 |
SNP id current | 1367117 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 3E-139 |
Pvalue mlog | 138.52287874528 |
P value text | |
Or beta | 0.1 |
%95 Ci | [NR] unit increase |
Platform | NR [NR] (imputed) |
CNV | N |
Mapped trait | total cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
Study accession | GCST002221 |