Human SNP ID | rs2286963 |
---|---|
Human chromosome | chr2 |
Human SNP position | 210195326 |
Pig chromosome | chr15 |
Pig SNP position | 124768190 |
PubMed ID | 20037589 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20037589 |
Study | A genome-wide perspective of genetic variation in human metabolism. |
Disease/Trait | Metabolite levels |
Initial sample | 1,029 European ancestry individuals |
Replication sample | 1,202 European ancestry individuals |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210195326 |
Reported gene | ACADL |
Mapped gene | ACADL |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 33 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2286963-T |
SNPs | rs2286963 |
Merged | 0 |
SNP id current | 2286963 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.37 |
P value | 3E-60 |
Pvalue mlog | 59.5228787452803 |
P value text | (C9/C10:2) |
Or beta | 13.8 |
%95 Ci | [NR] % variance |
Platform | Affymetrix [517480] |
CNV | N |
Mapped trait | metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
Study accession | GCST000550 |
PubMed ID | 26068415 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26068415 |
Study | Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. |
Disease/Trait | Acylcarnitine levels |
Initial sample | up to 7,478 European ancestry individuals |
Replication sample | 1,182 European ancestry individuals |
Region | 2q34 |
Chromosome id | chr2 |
Chromosome position | 210195326 |
Reported gene | CPS1, ACADL |
Mapped gene | ACADL |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 33 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2286963-T |
SNPs | rs2286963 |
Merged | 0 |
SNP id current | 2286963 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.6338 |
P value | 3E-118 |
Pvalue mlog | 117.52287874528 |
P value text | (Nonaylcarnitine) |
Or beta | 0.2057 |
%95 Ci | [0.19-0.22] unit decrease |
Platform | Affymetrix, Illumina [at least 296619] (imputed) |
CNV | N |
Mapped trait | acylcarnitine measurement, blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005059, http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002961 |