| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs10927875 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 3 | ||
| rs1266360671 | 0.925 | 0.080 | 1 | 237270518 | missense variant | T/C | snv | 4.7E-06 | 3 | ||
| rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
| rs138592977 | 1.000 | 0.040 | 1 | 156135968 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
| rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 3 | |||
| rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
| rs267607594 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 3 | |||
| rs28933090 | 0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv | 3 | |||
| rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
| rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
| rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
| rs58013325 | 1.000 | 0.080 | 1 | 156137144 | frameshift variant | -/C | delins | 3 | |||
| rs727502886 | 0.925 | 0.040 | 1 | 236719007 | missense variant | G/A | snv | 3 | |||
| rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
| rs1407369744 | 1.000 | 0.080 | 1 | 236739384 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs267607573 | 1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv | 2 | |||
| rs267607577 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 2 | |||||
| rs267607618 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 2 | |||
| rs267607646 | 1.000 | 0.080 | 1 | 156115265 | frameshift variant | -/G | delins | 2 | |||
| rs28933092 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 2 | |||
| rs397517888 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 2 | |||
| rs58917027 | 1.000 | 0.120 | 1 | 156130708 | missense variant | A/C;G | snv | 2 | |||
| rs61046466 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 2 | |||
| rs794728589 | 1.000 | 0.080 | 1 | 156115275 | splice donor variant | G/A;C | snv | 2 | |||
| rs794728591 | 1.000 | 0.080 | 1 | 156134811 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 |