| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs17153694 | 0.851 | 0.160 | 8 | 11730972 | intron variant | C/T | snv | 0.12 | 4 | ||
| rs56208331 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 4 | ||
| rs387906816 | 0.882 | 0.080 | 18 | 22171695 | missense variant | G/A | snv | 8.4E-04 | 1.5E-04 | 4 | |
| rs121908601 | 0.851 | 0.080 | 8 | 105419192 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-03 | 4 | ||
| rs187043152 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 4 | ||
| rs181317402 | 0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 | 3 | ||
| 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 | ||
| rs387906818 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 3 | |||
| rs121918351 | 0.882 | 0.240 | 20 | 10658611 | missense variant | C/T | snv | 3 | |||
| rs1554034812 | 0.925 | 0.240 | 5 | 37058938 | frameshift variant | G/- | delins | 3 | |||
| rs2228638 | 1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 | 3 | |
| rs121908603 | 0.882 | 0.120 | 8 | 105802189 | missense variant | A/C;G | snv | 4.9E-04; 4.0E-06 | 3 | ||
| rs16939660 | 0.925 | 0.120 | 15 | 58010689 | synonymous variant | T/C | snv | 8.4E-03 | 1.5E-02 | 2 | |
| rs1569484124 | 0.925 | 0.080 | MT | 6925 | frameshift variant | C/- | delins | 2 | |||
| rs563655306 | 0.925 | 0.080 | 6 | 139373371 | missense variant | T/C | snv | 3.2E-03 | 2.0E-03 | 2 | |
| rs1185861796 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs864321699 | 1.000 | 0.080 | 8 | 11708337 | missense variant | G/A;C | snv | 2 | |||
| rs145895196 | 0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 | 2 | ||
| rs769531968 | 0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs139365823 | 0.925 | 0.080 | 16 | 56858519 | non coding transcript exon variant | G/A;C;T | snv | 4.1E-06; 2.9E-05 | 2 | ||
| rs104893902 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs104893905 | 0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 | 2 | ||
| rs201442000 | 0.925 | 0.080 | 5 | 173235019 | missense variant | T/C;G | snv | 1.3E-04; 4.1E-06 | 2 | ||
| rs372187772 | 1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 | 2 |