| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587776888 | 0.925 | 0.160 | 1 | 228149860 | upstream gene variant | A/G | snv | 2 | |||
| rs1553262438 | 1.000 | 0.080 | 1 | 228157899 | stop gained | C/G | snv | 1 | |||
| rs1558119445 | 1.000 | 0.080 | 1 | 228157841 | frameshift variant | -/AC | delins | 1 | |||
| rs767350733 | 0.882 | 0.120 | 2 | 201724392 | stop gained | G/A | snv | 2.0E-05 | 7 | ||
| rs797045050 | 0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv | 6 | |||
| rs1364050643 | 0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv | 5 | |||
| rs869312880 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 5 | |||
| rs1057518760 | 1.000 | 0.080 | 2 | 240788182 | missense variant | C/T | snv | 4 | |||
| rs1060499939 | 0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv | 4 | |||
| rs121918262 | 0.882 | 0.240 | 2 | 86282216 | missense variant | G/A;T | snv | 4.0E-06 | 3 | ||
| rs1331505548 | 0.925 | 0.200 | 2 | 148949891 | missense variant | A/G | snv | 2 | |||
| rs1553314978 | 0.925 | 0.120 | 2 | 32114826 | splice donor variant | G/A;T | snv | 2 | |||
| rs1057518880 | 1.000 | 0.080 | 2 | 32126966 | frameshift variant | G/- | del | 1 | |||
| rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 | |||
| rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
| rs772400670 | 0.925 | 0.080 | 4 | 107947417 | stop gained | C/A;G;T | snv | 8.0E-06; 1.2E-05; 1.2E-05 | 3 | ||
| rs759033144 | 1.000 | 0.080 | 4 | 107947399 | frameshift variant | AG/- | delins | 1.2E-05 | 2.1E-05 | 1 | |
| rs730882207 | 0.925 | 0.160 | 5 | 112204453 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 2 | |
| rs1562502139 | 0.925 | 0.200 | 7 | 22983996 | frameshift variant | TT/- | del | 2 | |||
| rs116171274 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 3 | ||
| rs121908613 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 3 | ||
| rs72554620 | 0.882 | 0.200 | 8 | 64604753 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs771551765 | 0.925 | 0.200 | 8 | 93815388 | missense variant | G/A | snv | 8.0E-06 | 4.2E-05 | 3 | |
| rs121908611 | 0.925 | 0.120 | 8 | 64596913 | missense variant | C/T | snv | 2.8E-05 | 6.3E-05 | 2 | |
| rs587777222 | 0.925 | 0.120 | 8 | 64615194 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 2 |