Human SNP ID | rs2072183 |
---|---|
Human chromosome | chr7 |
Human SNP position | 44539581 |
Pig chromosome | chr18 |
Pig SNP position | 55632137 |
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 | 7p13 |
Chromosome id | chr7 |
Chromosome position | 44539581 |
Reported gene | NPC1L1 |
Mapped gene | NPC1L1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 29881 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2072183-A |
SNPs | rs2072183 |
Merged | 0 |
SNP id current | 2072183 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.43 |
P value | 0.00000000004 |
Pvalue mlog | 10.397940008672 |
P value text | |
Or beta | 1.17 |
%95 Ci | [0.8-1.54] mg/dL decrease |
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 | 7p13 |
Chromosome id | chr7 |
Chromosome position | 44539581 |
Reported gene | NPC1L1 |
Mapped gene | NPC1L1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 29881 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2072183-C |
SNPs | rs2072183 |
Merged | 0 |
SNP id current | 2072183 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.25 |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | |
Or beta | 2.01 |
%95 Ci | [1.44-2.58] 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 | 7p13 |
Chromosome id | chr7 |
Chromosome position | 44539581 |
Reported gene | NPC1L1 |
Mapped gene | NPC1L1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 29881 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2072183-C |
SNPs | rs2072183 |
Merged | 0 |
SNP id current | 2072183 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.29 |
P value | 0.0000000000000007 |
Pvalue mlog | 15.1549019599857 |
P value text | |
Or beta | 0.039 |
%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 | 7p13 |
Chromosome id | chr7 |
Chromosome position | 44539581 |
Reported gene | NPC1L1 |
Mapped gene | NPC1L1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 29881 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2072183-C |
SNPs | rs2072183 |
Merged | 0 |
SNP id current | 2072183 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.29 |
P value | 0.000000000000004 |
Pvalue mlog | 14.397940008672 |
P value text | |
Or beta | 0.036 |
%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 |