Table 2

Frequency of URAT1 genetic variations in Korean subjects

rs numberVariantAmino acid substitutionMinor allele frequencyrs numberVariantAmino acid substitutionMinor allele frequency
Promoter variants
 rs11602903c.-788A>T0.265rs559946c.-424C>T0.265
 rs524023c.-764C>T0.265rs3825018c.-220A>G0.265
 rs9734313c.-718C>T0.265c.-46G>A0.007
Coding variant
 rs3825017c.246C>TN82N0.224rs121907893c.650C>TT217M0.007
 rs3825016c.258C>TH86H0.265rs121907892c.774G>AW258X0.044
 rs11231825c.426T>CH142H0.265rs7932775c.1309T>CL437L0.427
Non-coding variants
 –c.506+32T>C0.007rs78880801c.1070+66C>T0.008
 rs75786299c.661+11G>A0.037rs373337426c.1071-33C>T0.022
 –c.662-18C>G0.007rs7929627c.1286-103A>G0.427
 rs2021860c.830+109G>T0.265c.1395-105C>T0.007
 rs1529909c.831-45T>C0.273rs11231837c.1598+18C>T0.427
3′UTR variants
 rs139299506c.*163delTC0.007rs3832794c.*291delG0.316
 rs148845071c.*268G>A0.037rs476037c.*517G>A0.316
  • Data were obtained from DNA samples from 68 unrelated Korean individuals.

  • The position of the variant is based upon the translational start site.