Human SNP ID | rs2479409 |
---|---|
Human chromosome | chr1 |
Human SNP position | 55038977 |
Pig chromosome | chr6 |
Pig SNP position | 145473861 |
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 | 1p32.3 |
Chromosome id | chr1 |
Chromosome position | 55038977 |
Reported gene | PCSK9 |
Mapped gene | BSND - PCSK9 |
Upstream gene id | 7809 |
Downstream gene id | 255738 |
SNP gene ids | |
Upstream gene distance | 30185 |
Downstream gene distance | 499 |
SNP risk allele | rs2479409-G |
SNPs | rs2479409 |
Merged | 0 |
SNP id current | 2479409 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.3 |
P value | 2E-28 |
Pvalue mlog | 27.698970004336 |
P value text | |
Or beta | 2.01 |
%95 Ci | [1.58-2.44] 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 | 1p32.3 |
Chromosome id | chr1 |
Chromosome position | 55038977 |
Reported gene | PCSK9 |
Mapped gene | BSND - PCSK9 |
Upstream gene id | 7809 |
Downstream gene id | 255738 |
SNP gene ids | |
Upstream gene distance | 30185 |
Downstream gene distance | 499 |
SNP risk allele | rs2479409-G |
SNPs | rs2479409 |
Merged | 0 |
SNP id current | 2479409 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.3 |
P value | 4E-24 |
Pvalue mlog | 23.397940008672 |
P value text | |
Or beta | 1.96 |
%95 Ci | [1.49-2.43] 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 | 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 | 1p32.3 |
Chromosome id | chr1 |
Chromosome position | 55038977 |
Reported gene | PCSK9 |
Mapped gene | BSND - PCSK9 |
Upstream gene id | 7809 |
Downstream gene id | 255738 |
SNP gene ids | |
Upstream gene distance | 30185 |
Downstream gene distance | 499 |
SNP risk allele | rs2479409-G |
SNPs | rs2479409 |
Merged | 0 |
SNP id current | 2479409 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.32 |
P value | 3E-50 |
Pvalue mlog | 49.5228787452803 |
P value text | |
Or beta | 0.064 |
%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 | 1p32.3 |
Chromosome id | chr1 |
Chromosome position | 55038977 |
Reported gene | PCSK9 |
Mapped gene | BSND - PCSK9 |
Upstream gene id | 7809 |
Downstream gene id | 255738 |
SNP gene ids | |
Upstream gene distance | 30185 |
Downstream gene distance | 499 |
SNP risk allele | rs2479409-G |
SNPs | rs2479409 |
Merged | 0 |
SNP id current | 2479409 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.32 |
P value | 2E-39 |
Pvalue mlog | 38.698970004336 |
P value text | |
Or beta | 0.054 |
%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 |