Table 5. C-score values for UTR-associated variants with diseases and related traits.
The table reports, from left to right: the UTR region where each selected variant is located; the rsID of the polymorphism (SNP); the associated quantitative trait or disease; the gene where the variant is predicted to map; the statistical significance of the variant, expressed as p value; its impact on the trait/disease; the C-score; and the Pubmed ID of the paper where the result has been reported, as indicated in GWAS Catalog.
| UTR region | SNP | Trait/disease | Mapped gene | p-value | Effect of the tested allele | C-score | PubmedID |
|---|---|---|---|---|---|---|---|
| 5′UTR | rs2236293 | Blood protein levels | TMEM8B | 5.0E-14 | 0.33 | 17.96 | 28240269 |
| rs149698681 | Granulocyte percentage of myeloid white cells | CAPN3 | 2.0E-10 | 0.08 | 13.83 | 27863252 | |
|
| |||||||
| 3′UTR | rs78378222 | Mean corpuscular hemoglobin | TP53 | 6.0E-09 | 0.10 | 17.97 | 27863252 |
| rs45474992 | Monocyte count | BBC3 | 3.0E-09 | 0.06 | 17.19 | 27863252 | |
| rs1128334 | Systemic lupus erythematosus | ETS1 | 7.0E-12 | 1.39 | 16.20 | 26663301 | |
| rs2297991 | Cholesterol, total | GPAM | 8.0E-10 | 0.04 | 15.46 | 25961943 | |
| rs11553699 | Reticulocyte fraction of red cells | TMEM120B, RHOF | 3.0E-09 | 0.03 | 14.74 | 27863252 | |
| rs6796 | Mean platelet volume | KDELR2 | 5.0E-15 | 0.03 | 14.21 | 27863252 | |
| rs16850073 | Monocyte percentage of white cells | CXCL6 | 5.0E-13 | 0.03 | 13.39 | 27863252 | |
| rs4233366 | Asthma | PPOX - ADAMTS4 | 5.0E-15 | 1.09 | 12.63 | 27182965 | |