| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs778360818 | 0.851 | 0.120 | 3 | 146079255 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 9 | |
| rs780770356 | 0.851 | 0.120 | 3 | 146071125 | stop gained | G/A | snv | 9 | |||
| rs771785420 | 0.851 | 0.120 | 16 | 81357848 | missense variant | C/G;T | snv | 4.0E-06 | 8 | ||
| rs1553827236 | 0.882 | 0.200 | 4 | 15516757 | splice donor variant | G/A | snv | 7 | |||
| rs730882245 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 6 | |||
| rs1470699812 | 0.925 | 0.120 | 3 | 58143562 | inframe deletion | AGG/- | delins | 8.0E-06 | 5 | ||
| rs118192174 | 0.882 | 0.200 | 19 | 38499961 | missense variant | T/A | snv | 2.0E-05 | 2.1E-05 | 5 | |
| rs766335907 | 0.851 | 0.200 | 19 | 18787632 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 4 | ||
| rs759244819 | 0.882 | 0.120 | 22 | 49904498 | frameshift variant | T/- | delins | 2.8E-05 | 3 | ||
| rs761221480 | 0.882 | 0.120 | 22 | 49913649 | frameshift variant | C/- | del | 1.6E-05 | 7.0E-06 | 3 | |
| rs121908620 | 0.925 | 0.080 | 10 | 72007888 | missense variant | T/C | snv | 2 | |||
| rs189468720 | 0.925 | 0.080 | 12 | 53955457 | missense variant | C/G | snv | 3.6E-03 | 3.6E-03 | 2 | |
| rs1135056 | 1.000 | 0.080 | 6 | 70252130 | missense variant | T/C | snv | 0.37 | 0.38 | 1 | |
| rs35470562 | 1.000 | 0.080 | 6 | 70240718 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs592121 | 1.000 | 0.080 | 6 | 70274733 | missense variant | A/G;T | snv | 0.40 | 1 | ||
| rs3801776 | 1.000 | 0.080 | 7 | 27165663 | intron variant | A/G | snv | 0.73 | 1 | ||
| rs730882191 | 1.000 | 0.080 | 5 | 135028925 | frameshift variant | GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- | delins | 1 | |||
| rs121909109 | 1.000 | 0.080 | 5 | 135031290 | missense variant | C/T | snv | 1 | |||
| rs7969148 | 1.000 | 0.080 | 12 | 124129992 | intron variant | T/C | snv | 0.23 | 1 |