Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
| rs2230009 | 0.827 | 0.240 | 8 | 31064419 | missense variant | G/A | snv | 5.8E-02 | 7.8E-02 | 5 | |
| rs3087425 | 0.882 | 0.160 | 8 | 31120294 | missense variant | C/T | snv | 2.8E-03 | 8.7E-04 | 3 | |
| rs17847577 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 2 | |
| rs776785728 | 1.000 | 0.080 | 8 | 31065058 | frameshift variant | AA/- | delins | 6.4E-05 | 2.1E-05 | 1 | |
| rs780555196 | 1.000 | 0.080 | 8 | 31088891 | frameshift variant | C/- | del | 2.8E-05 | 2.1E-05 | 1 | |
| rs774765029 | 1.000 | 0.080 | 8 | 31124556 | stop gained | C/T | snv | 2.4E-05 | 1 | ||
| rs776963381 | 1.000 | 0.080 | 8 | 31147052 | splice acceptor variant | G/A;T | snv | 2.0E-05 | 1 | ||
| rs121908446 | 1.000 | 0.080 | 8 | 31157461 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 | 1 | |
| rs747319628 | 1.000 | 0.080 | 8 | 31132498 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
| rs758988621 | 1.000 | 0.080 | 8 | 31064288 | splice acceptor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs143916053 | 1.000 | 0.080 | 8 | 31111720 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs752830087 | 1.000 | 0.080 | 8 | 31067052 | frameshift variant | G/- | delins | 1.2E-05 | 1 | ||
| rs1244318419 | 1.000 | 0.080 | 8 | 31076199 | frameshift variant | AACA/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
| rs370324188 | 1.000 | 0.080 | 8 | 31068276 | stop gained | C/T | snv | 8.2E-06 | 7.0E-06 | 1 | |
| rs763089663 | 1.000 | 0.080 | 8 | 31111747 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
| rs777096501 | 1.000 | 0.080 | 8 | 31088966 | splice donor variant | G/A;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
| rs1281075870 | 1.000 | 0.080 | 8 | 31142702 | splice donor variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs1198210848 | 1.000 | 0.080 | 8 | 31058535 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs188554751 | 0.851 | 0.200 | 8 | 31120403 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
| rs772319506 | 1.000 | 0.080 | 8 | 31091900 | splice donor variant | T/G | snv | 4.0E-06 | 1 | ||
| rs757808169 | 1.000 | 0.080 | 8 | 31090857 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs1284409960 | 1.000 | 0.080 | 8 | 31147072 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs113993961 | 1.000 | 0.080 | 8 | 31141680 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
| rs1383589957 | 1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 | 1 |