| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs748523570 | 1.000 | 0.040 | 11 | 112150119 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs137854567 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 3 | ||
| rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
| rs2234663 | 0.716 | 0.480 | 2 | 113130529 | intron variant | ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC | delins | 14 | |||
| rs1382979668 | 1.000 | 0.040 | 11 | 113809254 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
| rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
| rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
| rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
| rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
| rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
| rs121913248 | 1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 | ||
| rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
| rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
| rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs778384980 | 1.000 | 0.040 | 12 | 120212445 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs137853080 | 1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv | 2 | |||
| rs761446954 | 1.000 | 0.040 | 10 | 121496722 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs536181987 | 1.000 | 0.040 | 10 | 121503881 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 1 | |
| rs137853081 | 1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv | 2 | |||
| rs121913323 | 1.000 | 0.040 | 19 | 1220416 | stop gained | C/T | snv | 2 | |||
| rs121913315 | 0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv | 5 | |||
| rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 |