Table 1.
Main human P2X7 single-nucleotide polymorphisms and related diseases/conditions.
| dbSNP ID | Base | Amino Acid | Effect on | Implicated Conditions |
|---|---|---|---|---|
| Substitution | Substitution | P2X7 Function | ||
| rsl7525809 | 370T > C | A76V | Loss | Multiple sclerosis |
| rs28360447 | 474G > A | G150R | Loss | Osteoporosis |
| rs208294 | 489C > T | H155Y | Gain | Multiple sclerosis, chronic pain, severe sepsis, children’s febrile seizures |
| rs7958311 | 835G > A | R270H | Loss | Chronic pain |
| rs28360457 | 946G > A | R307Q | Loss | Osteoporosis |
| rs1718119 | 1068G > A | A348T | Gain | Osteoporosis, anxiety disorder, toxoplasmosis |
| rs2230911 | 1096C > G | T357S | Loss | Osteoporosis |
| rs2230912 | 1405A > G | Q460R | Loss | Osteoporosis, severe sepsis, bipolar disorders, major depressive disorders |
| rs3751143 | 1513A > C | E496A | Loss | Osteoporosis, tuberculosis, cardiovascular risks |
| rs2230913 | 1563C > G | H521Q | Neutral | - |
| rs1653624 | 1729T > A | I568N | Loss | Osteoporosis |