Fig. 2

Common variants of KCNQ1, rs179785 and rs200562977, demonstrated by direct sequencing. rs200562977, a 12-bp deletion variant of KCNQ1, was identified as a common variant. rs179785 (A/G) is located at the last nucleotide (“A”) of 12-bp deletion site for rs200562977. Thus, when there is no deletion (a), rs179785 can be properly genotyped. On the other hand, when there is heterozygote (b) or homozygote (c) of 12-bp deletion, the position of rs179785 disappears