Table 2.
SNPs Evaluated in the LQTS Genes
| Gene | SNP | Chromosomal Position (dbSNP Build 128) | Location in Gene | Protein Coding | Alleles (Major/Minor) | MAF | Genotype Counts | ||
|---|---|---|---|---|---|---|---|---|---|
| SCN5A | rs6599230 | chr3: 38649716 | Exon 2 | A29A | G/A | 0.176 | GG (n = 594) | GA (n = 257) | AA (n = 25) |
| IVS9 ‐3C > A (rs41312433) | chr3: 38622646 | Intron 9 | C/A | 0.205 | CC (n = 502) | CA (n = 285) | AA (n = 26) | ||
| rs7428779 | chr3: 38621427 | Intron 10 | G/A | 0.198 | GG (n = 526) | GA (n = 282) | AA (n = 28) | ||
| rs1805124 | chr3: 38620424 | Exon 12 | H558R | A/G | 0.223 | AA (n = 515) | AG (n = 305) | GG (n = 37) | |
| rs7430407 | chr3: 38597471 | Exon 17 | E1061E | G/A | 0.095 | GG (n = 698) | GA (n = 145) | AA (n = 3) | |
| IVS24 +53T>C (rs41312393) | chr3: 38573673 | Intron 24 | T/C | 0.045 | TT (n = 800) | TC (n = 72) | CC (n = 0) | ||
| IVS24 + 116G>A (rs41312391) | chr3: 38573610 | Intron 24 | G/A | 0.143 | GG (n = 626) | GA (n = 206) | AA (n = 22) | ||
| HERG | rs1805123 | chr7: 150276467 | Exon 7 | K897T | A/C | 0.236 | AA (n = 518) | AC (n = 305) | CC (n = 60) |
| KCNQ1 | rs760419 | chr11: 2639933 | Intron 11 | A/G | 0.497 | AA (n = 232) | AG (n = 439) | GG (n = 185) | |
| IVS12 +14T>C (rs11024034) | chr11: 2746739 | Intron 12 | T/C | 0.101 | TT (n = 697) | TC (n = 156) | CC (n = 11) | ||
| rs1057128 | chr11: 2753813 | Exon 13 | S546S | G/A | 0.221 | GG (n = 527) | GA (n = 313) | AA (n = 35) | |
| rs163150 | chr11: 2753896 | Intron 13 | G/A | 0.353 | GG (n = 358) | GA (n = 383) | AA (n = 112) | ||
| rs81204 | chr11: 2754881 | Intron 14 | T/C | 0.242 | TT (n = 507) | TC (n = 323) | CC (n = 45) | ||
| KCNE2 | rs9305548 | chr21: 34664592 | Intron 1 | C/T | 0.168 | CC (n = 610) | CT (n = 230) | TT (n = 23) | |
| IVS1 ‐16A > G (rs41314677) | chr21: 34664620 | Intron 1 | A/G | 0.007 | AA (n = 854) | AG (n = 8) | GG (n = 5) | ||
| KCNE1 | rs2236609 | chr21: 34743981 | Intron 3 | C/T | 0.385 | CC (n = 328) | CT (n = 400) | TT (n = 145) | |
| rs2236608 | chr21: 34743911 | Intron 3 | T/C | 0.012 | TT (n = 812) | TC (n = 7) | CC (n = 3) | ||
| rs1805127 | chr21: 34743691 | Exon 4 | G38S | G/A | 0.354 | GG (n = 361) | GA (n = 385) | AA (n = 124) | |
| rs1805128 | chr21: 34743550 | Exon 4 | D85N | G/A | 0.008 | GG (n = 871) | GA (n = 15) | AA (n = 0) | |
| C*132 A >G (rs41314071) | chr21: 34743281 | 3′ UTR | A/G | 0.044 | AA (n = 783) | AG (n = 66) | GG (n = 5) | ||
| rs2070357 | chr21: 34743289 | 3′ UTR | G/A | 0.47 | GG (n = 238) | GA (n = 429) | AA (n = 198) | ||
| rs2070356 | chr21: 34742957 | 3′ UTR | T/C | 0.478 | TT (n = 223) | TC (n = 406) | CC (n = 193) | ||
The minor allele frequency (MAF) and the number of observations of each genotype in unrelated European American probands are shown for each SNP. SNPs in bold indicate those that deviate from Hardy‐Weinberg proportions.