T2D
In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)).
In addition, two missense variants in <span class="gene" id="24464100-4-38-41">PAM</span>, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of <span class="disease" id="24464100-4-156-159">T2D</span> (OR = 1.23, P = 3.9 &times; 10(-10) and OR = 1.47, P = 1.7 &times; 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of <span class="disease" id="24464100-4-341-344">T2D</span> (OR = 2.27, P = 7.3 &times; 10(-7)).