| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
| rs1057519804 | 1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv | 1 | |||
| rs397514644 | 0.925 | 0.040 | 14 | 104780190 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs587779826 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 5 | ||
| rs137854567 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 1 | ||
| rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
| rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 1 | |||
| rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
| rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 1 | |||
| rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 1 | |||
| 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 | 14 | ||
| rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 13 | |||
| rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 12 | ||
| rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 12 | |||
| rs137853080 | 1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv | 1 | |||
| rs137853081 | 1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv | 1 | |||
| 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 | |||
| rs1057519815 | 1.000 | 0.040 | 3 | 12599696 | missense variant | C/G | snv | 1 | |||
| rs727505017 | 0.882 | 0.200 | 3 | 12604201 | missense variant | A/G;T | snv | 3 | |||
| rs121913372 | 1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv | 1 | |||
| rs121913373 | 1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv | 1 | |||
| rs121913365 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 8 | |||
| rs121913226 | 1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del | 1 |