| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs864321645 | 5 | 173233210 | splice acceptor variant | C/A | snv | 1 | |||||
| rs864321648 | 5 | 173233153 | missense variant | C/T | snv | 1 | |||||
| rs864321649 | 5 | 173233101 | missense variant | G/A;T | snv | 1 | |||||
| rs864321698 | 8 | 11708335 | missense variant | C/A;T | snv | 1 | |||||
| rs864321700 | 8 | 11708695 | missense variant | A/T | snv | 1 | |||||
| rs864321701 | 8 | 11708709 | missense variant | A/T | snv | 1 | |||||
| rs864321702 | 8 | 11748984 | missense variant | T/A | snv | 1 | |||||
| rs864321703 | 8 | 11708339 | missense variant | C/A | snv | 1 | |||||
| rs864321704 | 8 | 11758409 | synonymous variant | C/T | snv | 1 | |||||
| rs864321705 | 8 | 11755135 | splice donor variant | T/G | snv | 1 | |||||
| rs3729753 | 1.000 | 0.040 | 5 | 173232938 | synonymous variant | C/G | snv | 9.9E-03 | 2.2E-03 | 3 | |
| rs1017 | 1.000 | 0.040 | 5 | 51394261 | 3 prime UTR variant | A/G;T | snv | 2 | |||
| rs143081213 | 1.000 | 0.040 | 21 | 34615168 | upstream gene variant | G/A | snv | 2.6E-02 | 2 | ||
| rs145641996 | 1.000 | 0.040 | 1 | 11792285 | missense variant | T/C;G | snv | 1.6E-05; 1.6E-04 | 2 | ||
| rs149048873 | 1.000 | 0.040 | 21 | 34615146 | upstream gene variant | G/A | snv | 5.5E-02 | 2 | ||
| rs1904589 | 1.000 | 0.040 | 10 | 70435683 | missense variant | T/C | snv | 0.62 | 0.56 | 2 | |
| rs45513495 | 1.000 | 0.040 | 19 | 12973519 | missense variant | G/A | snv | 1.1E-02 | 1.1E-02 | 2 | |
| rs387906769 | 0.807 | 0.080 | 8 | 11708799 | missense variant | C/T | snv | 7.3E-05 | 4.2E-05 | 7 | |
| rs387906776 | 1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 | 3 | ||
| rs372187772 | 1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 | 2 | ||
| rs864321699 | 1.000 | 0.080 | 8 | 11708337 | missense variant | G/A;C | snv | 2 | |||
| rs870142 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 7 | |||
| rs16835979 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 6 | ||
| rs6824295 | 0.851 | 0.120 | 4 | 4612553 | intron variant | C/T | snv | 0.20 | 6 | ||
| rs804280 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 6 |