| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918597 | 0.925 | 0.080 | 1 | 237634937 | missense variant | C/T | snv | 2 | |||
| rs121918599 | 0.925 | 0.080 | 1 | 237784024 | missense variant | C/G | snv | 2 | |||
| rs121918601 | 0.925 | 0.120 | 1 | 237640938 | missense variant | A/T | snv | 2 | |||
| rs121918605 | 0.925 | 0.080 | 1 | 237784314 | missense variant | A/G | snv | 2 | |||
| rs1401116572 | 1.000 | 0.080 | 1 | 237441382 | missense variant | G/A | snv | 2 | |||
| rs1415931588 | 1.000 | 0.080 | 1 | 237377426 | missense variant | A/T | snv | 2 | |||
| rs730880199 | 0.925 | 0.080 | 1 | 237819167 | missense variant | T/G | snv | 2 | |||
| rs764772142 | 0.925 | 0.080 | 1 | 237377349 | missense variant | C/A;T | snv | 8.0E-06 | 2 | ||
| rs769219555 | 0.925 | 0.120 | 1 | 237648612 | missense variant | C/T | snv | 4.2E-05 | 8.4E-05 | 2 | |
| rs794728811 | 0.925 | 0.080 | 1 | 237832619 | missense variant | G/A | snv | 2 | |||
| rs1085307100 | 0.925 | 0.080 | 6 | 123512344 | frameshift variant | -/T | delins | 2 | |||
| rs1060502164 | 1.000 | 0.080 | 1 | 115744914 | splice acceptor variant | T/C | snv | 1 | |||
| rs139228801 | 1.000 | 0.080 | 1 | 115705208 | missense variant | G/A;T | snv | 3.2E-05 | 1 | ||
| rs146664754 | 1.000 | 0.080 | 1 | 115732940 | missense variant | G/C | snv | 7.2E-04 | 5.4E-04 | 1 | |
| rs151115064 | 1.000 | 0.080 | 1 | 115725543 | missense variant | G/A | snv | 5.3E-05 | 7.9E-05 | 1 | |
| rs397507555 | 1.000 | 0.080 | 1 | 115768480 | frameshift variant | T/- | del | 1 | |||
| rs397507556 | 1.000 | 0.080 | 1 | 115768445 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 1 | ||
| rs397516643 | 1.000 | 0.080 | 1 | 115732927 | frameshift variant | TGA/GT | delins | 1 | |||
| rs763955301 | 1.000 | 0.080 | 1 | 115732961 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
| rs876657635 | 1.000 | 0.080 | 1 | 115702996 | splice acceptor variant | C/A | snv | 1 | |||
| rs199473368 | 1.000 | 0.080 | 17 | 70175239 | missense variant | G/A | snv | 1 | |||
| rs199473657 | 1.000 | 0.080 | 17 | 70175718 | missense variant | G/T | snv | 1 | |||
| rs765542241 | 1.000 | 0.080 | 7 | 92234838 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 1 | |
| rs1554258777 | 1.000 | 0.080 | 6 | 123570921 | splice donor variant | A/T | snv | 1 | |||
| rs1060500137 | 1.000 | 0.080 | 1 | 237772077 | missense variant | G/A | snv | 1 |