Official Journal of the Human Genome Organisation
Table 6 Number of haplotype blocks and haplotype tag SNPs in the genes associated with congenital long QT syndrome (LQTS)
Gene ID | Number of haplotype blocks | rs IDs | Nucleotide change | Functional role | Linkage disequilibrium | |
|---|---|---|---|---|---|---|
D’ | r 2 | |||||
KCNQ1 | 26 | rs10741726 | G → T | Intron | 1.0 | 0.96 |
rs11024304 | C → T | Intron | 1.0 | 0.9 | ||
rs2237898 | A → C | Intron | 1.0 | 0.9 | ||
rs2237899 | C → T | Intron | 1.0 | 0.93 | ||
rs10798 | A → G | 3′ UTR | 1.0 | 0.96 | ||
rs8234 | A → G | 3′ UTR | 1.0 | 0.92 | ||
KCNH2 | 4 | rs3807375 | A → G | Intron | 1.0 | 0.9 |
rs2072413 | A → G | Intron | 0.547 | 0.71 | ||
SCN5A | 10 | rs6795580 | C → G | Intron | 0.104 | 0.64 |
rs6599229 | A → G | Intron | 0.599 | 0.72 | ||
rs7427106 | C → G | Intron | 1.0 | 0.97 | ||
rs6768664 | A → C | Intron | 1.0 | 0.97 | ||
KCNE1 and KCNE2 | 1 | rs2834485 | A → G | 3′ UTR | 1.0 | 0.96 |
rs11702354 | A → G | 3′ UTR | 1.0 | 0.96 | ||
rs9305548 | C → T | Intron | 0.871 | 0.71 | ||
rs9984281 | A → G | Intron | 0.871 | 0.59 | ||