Table 2.
Genotypic Association for all analysed SNPs
| Control** | Cases** | All Controls Vs Acyanotic cases | All Controls Vs Cyanotic cases | All Controls Vs Combined cases | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Mapped gene | SNP | Control group 1 | Control group 2 | Control group 3# | All Control | Acyanotic | Cyanotic | Total cases | ChiSq:p | ChiSq:p | ChiSq:p |
| ENSA | rs12045807 | 0/5/35 | 4/83/402 | 19/212/930 | 23/300/1367 | 6/31/146 | 1/17/88 | 7/48/234 | 4.01;0.13 | 0.35;0.84 | 2.02;0.36 |
| CRELD1 * | rs73118372 | 0/0/46 | 5/53/431 | - | 5/53/477 | 0/4/150 | 0/3/89 | 0/7/239 | - | - | - |
| SYNPR-AS1, SYNPR | rs1975649 | 3/29/6 | 49/217/223 | 126/510/516 | 178/756/745 | 12/101/65 | 11/42/40 | 23/143/105 | 9.41;0.01 | 0.16;0.92 | 5.74;0.06 |
| INTERGENIC * | rs185531658 | 0/0/45 | 0/0/489 | - | 0/0/534 | 0/3/180 | 0/0/103 | 0/3/283 | - | - | - |
| ELN | rs2071307 | 1/15/19 | 19/186/284 | 64/436/643 | 84/637/946 | 10/74/90 | 3/36/59 | 13/110/149 | 1.62;0.44 | 0.98;0.61 | 0.49;0.78 |
| CHD7 * | rs3763592 | 0/9/35 | 1/43/445 | - | 1/52/480 | 0/16/157 | 0/13/90 | 0/29/247 | - | - | - |
| LINC02676 | rs2388896 | 4/16/21 | 52/208/229 | 115/496/528 | 171/720/778 | 9/71/75 | 8/32/51 | 17/103/126 | 3.16;0.21 | 3.09;0.21 | 3.47;0.18 |
| NRP1 | rs2228638 | 0/7/41 | 10/109/370 | 15/186/955 | 25/302/1366 | 1/34/147 | 0/17/89 | 1/51/236 | 1.08;0.58 | - | 2.44;0.29 |
| UCP2 | rs659366 | 3/26/7 | 62/239/188 | 122/518/504 | 187/783/699 | 25/90/55 | 8/56/39 | 33/146/94 | 6.24;0.04 | 2.56;0.28 | 5.46;0.07 |
| ATXN2-AS, BRAP | rs11065987 | 0/2/45 | 4/51/434 | - | 4/53/479 | 1/14/174 | 1/10/99 | 2/24/273 | 1.14;0.57 | 0.09;0.95 | 0.82;0.66 |
| SH2B3, PTPN11 | rs11066320 | 0/2/45 | 5/54/430 | - | 5/56/475 | 2/16/171 | 1/9/100 | 3/25/271 | 0.63;0.73 | 0.52;0.77 | 0.96;0.62 |
| INTERGENIC | rs1497062 | 4/19/17 | 59/215/215 | - | 63/234/232 | 27/63/76 | 9/42/49 | 36/105/125 | 3.12;0.21 | 1.22;0.54 | 1.7;0.43 |
| MYH6 | rs28711516 | 0/1/46 | 3/79/407 | - | 3/80/453 | 1/16/174 | 0/5/105 | 1/21/279 | 5.28;0.07 | - | 11.77;0.003 |
| MYH7 | rs735712 | 0/5/37 | 4/97/388 | - | 4/102/425 | 2/15/155 | 0/10/86 | 2/25/241 | 10.44;0.01 | - | 13.03;0.002 |
| LINC02252, GJD2 | rs6495706 | 0/6/41 | 2/65/422 | - | 2/71/463 | 0/20/175 | 2/9/100 | 2/29/275 | - | 5.14;0.08 | 2.92;0.23 |
| PCSK6 | rs3784481 | 11/18/11 | 127/238/124 | 230/575/332 | 368/831/467 | 42/75/50 | 25/48/24 | 67/123/74 | 1.59;0.45 | 0.92;0.63 | 1.59;0.45 |
| INTERGENIC | rs6499100 | 9/27/10 | 86/247/156 | 204/588/350 | 299/862/516 | 35/91/54 | 21/52/33 | 56/143/87 | 0.29;0.87 | 0.43;0.81 | 0.52;0.77 |
| PKD1L2 | rs55788414 | 0/3/40 | 1/73/415 | - | 1/76/455 | 1/18/164 | 1/12/95 | 2/30/259 | 2.94;0.23 | 2.28; 0.32 | 3.86;0.15 |
| GOSR2 * | rs11874 | 0/0/46 | 1/38/450 | - | 1/38/496 | 0/6/185 | 0/6/102 | 0/12/287 | - | - | - |
| JAG1 | rs35761929 | 1/16/18 | 16/110/363 | - | 17/126/381 | 5/43/115 | 1/24/71 | 6/67/186 | 0.37;0.83 | 1.4;0.5 | 0.76;0.68 |
| MYH7B | rs3746446 | 0/11/32 | 33/193/263 | - | 33/204/295 | 7/71/97 | 4/46/55 | 11/117/152 | 1.3;0.52 | 1.68;0.43 | 2.35;0.31 |
*Association could not be calculated because of very low counts
**genotype counts of variant homozygous / heterozygous/wildtype homozygous for each category are denoted
#only 8 markers data available; All associated ChiSq: p values in bold font