| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121909264 | 0.851 | 0.160 | 3 | 122257323 | missense variant | G/A | snv | 5 | |||
| rs193922442 | 0.827 | 0.120 | 3 | 122261589 | frameshift variant | G/- | del | 5 | |||
| rs28936684 | 0.827 | 0.160 | 3 | 122261715 | missense variant | G/A;T | snv | 4.0E-06 | 5 | ||
| rs767363250 | 0.827 | 0.280 | 3 | 122283992 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 5 | |
| rs1482119762 | 0.851 | 0.200 | 3 | 122261693 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
| rs104893705 | 0.882 | 0.120 | 3 | 122283896 | stop gained | C/A;G;T | snv | 4.0E-06 | 3 | ||
| rs1057520791 | 0.882 | 0.160 | 3 | 122284611 | missense variant | G/A;C | snv | 3 | |||
| rs1060502855 | 0.882 | 0.160 | 3 | 122261567 | missense variant | A/G | snv | 3 | |||
| rs121909258 | 0.882 | 0.160 | 3 | 122284337 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
| rs121909260 | 0.882 | 0.160 | 3 | 122257275 | missense variant | A/C;G | snv | 3 | |||
| rs886041154 | 0.882 | 0.160 | 3 | 122254353 | missense variant | C/T | snv | 3 | |||
| rs587777019 | 0.882 | 0.120 | 19 | 3113412 | missense variant | T/A | snv | 3 | |||
| rs1085307984 | 0.925 | 0.160 | 3 | 122261714 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs1553766768 | 0.925 | 0.160 | 3 | 122261768 | stop gained | C/T | snv | 2 | |||
| rs1553768972 | 0.925 | 0.160 | 3 | 122283924 | frameshift variant | C/- | delins | 2 | |||
| rs193922423 | 0.925 | 0.120 | 3 | 122275959 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
| rs201633414 | 0.925 | 0.160 | 3 | 122254262 | stop gained | C/A;T | snv | 8.0E-06 | 2 | ||
| rs797044441 | 0.925 | 0.120 | 3 | 122257080 | splice acceptor variant | G/T | snv | 2 | |||
| rs1553731681 | 1.000 | 0.120 | 3 | 122261678 | missense variant | G/C | snv | 1 | |||
| rs193922419 | 1.000 | 0.120 | 3 | 122262093 | missense variant | A/C | snv | 1 | |||
| rs193922421 | 1.000 | 0.120 | 3 | 122262279 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs193922422 | 1.000 | 0.120 | 3 | 122275945 | frameshift variant | GTTT/- | delins | 1 | |||
| rs193922424 | 1.000 | 0.120 | 3 | 122254354 | frameshift variant | G/- | delins | 1 | |||
| rs193922425 | 1.000 | 0.120 | 3 | 122282180 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
| rs193922426 | 1.000 | 0.120 | 3 | 122282189 | missense variant | G/C | snv | 1 |