Allele frequencies for hURAT1 (SLC22A12) SNPs in cases and controls
| LD bin* | dbSNP ID | Region | Nucleotide change | Minor allele† | Minor allele frequency | ||
| Cases | Controls | p‡ | |||||
| 1 | rs11602903 | promoter | −788A→T | T | 0.196 | 0.264 | 0.011 |
| 1 | rs524023 | promoter | −764T→C | C | 0.196 | 0.264 | 0.011 |
| 1 | rs9734313 | promoter | −718C→T | T | 0.196 | 0.264 | 0.011 |
| 1 | rs559946 | promoter | −367C→T | T | 0.198 | 0.261 | 0.020 |
| 1 | rs3825018 | promoter | −220G→A | A | 0.198 | 0.261 | 0.020 |
| 2 | rs3825017 | Exon 1 | 246C→T | T | 0.271 | 0.264 | 0.832 |
| 1 | rs3825016 | Exon 1 | 258C→T | T | 0.204 | 0.232 | 0.181 |
| 3 | rs11231825 | Exon 2 | 426C→T | C | 0.207 | 0.243 | 0.036 |
| 4 | rs576076 | Intron 2 | 271A→G | A | 0.446 | 0.484 | 0.256 |
| 1 | rs10792441 | Intron 2 | 277 C→T | T | 0.208 | 0.263 | 0.047 |
| 1 | rs537246 | Intron 2 | 278A→G | G | 0.208 | 0.263 | 0.047 |
| 5 | Novel§ | Intron 3 | 11 G→A | A | 0.060 | 0.019 | 0.0005 |
| 6 | rs7929627 | Intron 7 | 376G→A | G | 0.519 | 0.424 | 0.002 |
| 6 | rs7932775 | Exon 8 | 1309T→C | C | 0.519 | 0.424 | 0.002 |
Note: All of the exonic SNPs correspond to synonymous changes in the protein sequence.
↵* All SNPs within each bin are in high LD (pair-wise r2≥0.8) with at least one other SNP within the bin (ie, possible tagSNP(s)). The bolded dbSNP ID within the bin indicates the tagSNP selected to represent the remaining SNPs within each bin based on the greedy algorithm of Carlson et al.19
↵† The minor allele for each SNP was determine by the frequency in the entire sample.
↵‡ p Value for a Fisher's exact test of allele frequency differences between cases and controls.
↵§ The provisional dbSNP accession number for this SNP is ‘ss161109885’.
hURAT1, human urate transporter 1; LD, linkage disequilibrium; SNPs, single nucleotide polymorphisms.