| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs56208331 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 4 | ||
| rs4841587 | 1.000 | 0.080 | 8 | 11756666 | non coding transcript exon variant | G/T | snv | 0.37 | 3 | ||
| rs4841588 | 1.000 | 0.080 | 8 | 11756716 | non coding transcript exon variant | G/T | snv | 0.19 | 3 | ||
| rs1185861796 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs146017816 | 1.000 | 8 | 11758471 | missense variant | C/G;T | snv | 7.2E-05; 1.6E-05 | 2 | |||
| rs368489876 | 1.000 | 8 | 11757012 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 2 | ||
| rs387906770 | 1.000 | 8 | 11708439 | splice acceptor variant | C/A;T | snv | 2 | ||||
| rs55633527 | 1.000 | 0.080 | 8 | 11758378 | missense variant | C/T | snv | 3.6E-03 | 3.2E-03 | 2 | |
| rs540578824 | 8 | 11708800 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
| rs1555896779 | 1.000 | 20 | 62473507 | missense variant | G/C | snv | 2 | ||||
| rs587777710 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 8 | |||
| rs756237060 | 5 | 154477792 | missense variant | C/T | snv | 4.8E-06 | 1 | ||||
| rs1564062144 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 7 | ||||
| rs7207109 | 1.000 | 0.080 | 17 | 48530455 | synonymous variant | C/T | snv | 0.18 | 0.18 | 2 | |
| rs3762977 | 5 | 51383180 | non coding transcript exon variant | A/G | snv | 0.15 | 1 | ||||
| rs1294950721 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 27 | ||
| rs1555038029 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 12 | |||
| rs1057516039 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 5 | |||
| rs10465885 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 4 | |||
| rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
| rs796052728 | 1.000 | 0.080 | 5 | 88823746 | missense variant | G/A | snv | 2 | |||
| rs771150933 | 1.000 | 0.080 | 15 | 89750880 | stop gained | G/A | snv | 2 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
| rs1532268 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 12 |