Table 1 SNPs included in polygenic risk score (PRS)
rsID | rs6552764 | rs7002316 | rs12921740 | rs58682566a |
Chr | 4 | 8 | 16 | 18 |
Gene | ENPP6 | LOC105375856 | Intergenic | EPG5 |
Source | Ware et al. 23 | Levine et al.22 | Ware et al.23 | Levine et al.22 |
Position | 184183350 | 57904885 | 20300710 | 45951902 |
Alleles | A/T | A/C | A/C/T | A/G |
1KG MAF | T = 0.1707 | C = 0.4020 | C = 0.2502 | G = 0.1753 |
Variant Class | intron | Intron | Regulatory | Intron |
Functional Annotation | Ectonucleotide pyrophosphatase/phosphodiesterase 6; Hydrolyzes p-nitrophenyl phosphorylcholine (pNPPC), p-nitrophenyl phenylphosphate (pNPPP), sphingosyl-phosphorylcholine and platelet-activating factor (PAF). | Non-coding RNA | CFTF transcription factor binding site | Ectopic P-granules autophagy protein 5 homolog; Involved in catabolic autophagy, endosome recycling, autophagosome maturation |
PRS weight | 0.1885 | 0.1219 | 0.1042 | 0.2514 |
