Table 3.
rs number | Base change | Polymorphism | MAF | HWE p value | Effect |
---|---|---|---|---|---|
rs2511241 | 137C > T | Leu46Pro | 0.09 | 0.012 | n.a.. |
rs3741156 | 936G > C | Arg312Ser | 0.23 | 0.120 | Gain-of-receptor function |
rs1626154 | 1000C > T | Arg334Cys | 0.16 | 0.031 | Gain-of-receptor function |
MAF minor allele frequency, HWE Hardy–Weinberg equilibrium, n.a. not available (no data published on functional effects of this polymorphism)