Details
| Name | p.Lys155Gln |
| Type | SNP |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | ChIP,qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases |
| Regulation Gene | C3 |
| Year | 2013 |
| Pubmed ID | 24036950 |
| Title | A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration |
| Drug | NA |
| Disease | age-related macular degeneration |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | SNP |
| High-throughput | NA |