| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs11125529 | 0.882 | 0.280 | 2 | 54248729 | intron variant | C/A;T | snv | 3 | |||
| rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
| rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
| rs397514639 | 1.000 | 0.120 | 15 | 74180120 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs762581936 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 5 | ||
| rs397518481 | 0.925 | 0.120 | 3 | 25501230 | stop gained | C/G;T | snv | 2 | |||
| rs763861742 | 0.925 | 0.240 | 1 | 155187268 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
| rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
| rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
| rs1130233 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 13 | |
| rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
| rs766333007 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 8 | ||
| rs1561927 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 6 | ||
| rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
| rs67437265 | 0.925 | 0.160 | 4 | 71022523 | missense variant | C/T | snv | 1.8E-02 | 2.3E-02 | 2 | |
| rs1344011 | 1.000 | 0.120 | 18 | 54937957 | splice region variant | C/T | snv | 0.20 | 0.17 | 1 | |
| rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
| rs183117027 | 1.000 | 0.120 | 2 | 21004340 | missense variant | C/T | snv | 5.1E-04 | 1.9E-04 | 1 | |
| rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
| rs397518484 | 1.000 | 0.120 | 15 | 74181459 | splice acceptor variant | C/T | snv | 7.0E-06 | 1 | ||
| rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
| rs1322648460 | 0.776 | 0.320 | 11 | 35139332 | frameshift variant | G/- | delins | 9 | |||
| rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 |