| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs10415893 | 1.000 | 19 | 17401603 | upstream gene variant | G/A | snv | 0.18 | 1 | |||
| rs6996198 | 1.000 | 8 | 64550885 | downstream gene variant | C/T | snv | 0.18 | 1 | |||
| rs10831234 | 1.000 | 11 | 94500021 | downstream gene variant | C/T | snv | 0.11 | 1 | |||
| rs2294367 | 1.000 | 22 | 39083569 | intron variant | C/A;G | snv | 1 | ||||
| rs35228531 | 1.000 | 22 | 39087839 | upstream gene variant | C/G;T | snv | 1 | ||||
| rs3736685 | 1.000 | 22 | 39081386 | intron variant | T/C | snv | 0.14 | 1 | |||
| rs6001417 | 1.000 | 22 | 39081372 | intron variant | C/G | snv | 0.14 | 1 | |||
| rs139292 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 1 | ||||
| rs139297 | 1.000 | 22 | 39101399 | missense variant | G/A;C;T | snv | 4.0E-06; 0.47 | 1 | |||
| rs3217318 | 1.000 | 19 | 17406018 | non coding transcript exon variant | GGGGCGGGGCCTGGGTCTG/-;GGGGCGGGGCCTGGGTCTGGGGGCGGGGCCTGGGTCTG | delins | 1 | ||||
| rs9576 | 1.000 | 19 | 17403172 | 3 prime UTR variant | T/G | snv | 0.92 | 1 | |||
| rs147879075 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 1 | |||
| rs541069027 | 1.000 | 3 | 46373290 | missense variant | G/A | snv | 1.8E-04 | 4.2E-05 | 1 | ||
| rs184279915 | 1.000 | 3 | 46373708 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 1 | |||
| rs777521033 | 1.000 | 1 | 109923705 | missense variant | G/A;T | snv | 8.0E-06 | 1 | |||
| rs11212495 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 1 | ||||
| rs7103534 | 1.000 | 11 | 108040925 | intron variant | T/C | snv | 0.13 | 1 | |||
| rs7117111 | 1.000 | 11 | 108046360 | synonymous variant | A/G | snv | 0.68 | 0.59 | 1 | ||
| rs749701046 | 1.000 | 6 | 38723032 | missense variant | G/A | snv | 4.1E-06 | 1 | |||
| rs1291142 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 1 | ||||
| rs1406795590 | 1.000 | 12 | 123586856 | missense variant | G/A | snv | 1 | ||||
| rs11038628 | 1.000 | 11 | 5667710 | missense variant | C/T | snv | 0.14 | 0.14 | 1 | ||
| rs146215995 | 1.000 | 11 | 5679850 | missense variant | C/A;T | snv | 8.0E-06; 9.5E-05 | 1 | |||
| rs17878969 | 1.000 | 12 | 47842624 | 3 prime UTR variant | TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins | 1 | ||||
| rs1047552 | 0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 | 2 |