Human SNP ID | rs2285714 |
---|---|
Human chromosome | chr4 |
Human SNP position | 109717654 |
Pig chromosome | chr8 |
Pig SNP position | 120593805 |
PubMed ID | 20385819 |
---|---|
Journal | Proc Natl Acad Sci U S A |
Link | www.ncbi.nlm.nih.gov/pubmed/20385819 |
Study | Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. |
Disease/Trait | Age-related macular degeneration |
Initial sample | 2,157 European ancestry cases, 1,150 European ancestry controls |
Replication sample | 7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls |
Region | 4q25 |
Chromosome id | chr4 |
Chromosome position | 109717654 |
Reported gene | CFI |
Mapped gene | PLA2G12A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 81579 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2285714-T |
SNPs | rs2285714 |
Merged | 0 |
SNP id current | 2285714 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.395 |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | 1.31 |
%95 Ci | [1.18-1.45] |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | age-related macular degeneration |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
Study accession | GCST000652 |