| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs118203945 | 0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv | 3 | |||
| rs1057519051 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 3 | |||
| rs121908893 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 3 | ||
| rs72552725 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 3 | |
| rs397514669 | 0.882 | 0.280 | 1 | 11285644 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
| rs28383481 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 2 | |
| rs386134209 | 1.000 | 0.160 | 5 | 132387039 | frameshift variant | C/-;CC | delins | 7.0E-06 | 2 | ||
| rs768272475 | 0.925 | 0.240 | 1 | 179345018 | synonymous variant | A/G | snv | 4.0E-06 | 2 | ||
| rs1022453298 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 1 | |||
| rs1057517069 | 1.000 | 0.160 | 5 | 132370366 | splice donor variant | G/A | snv | 1 | |||
| rs11568520 | 1.000 | 0.160 | 5 | 132370023 | missense variant | C/G | snv | 1.2E-04 | 4.9E-05 | 1 | |
| rs1253026669 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 1 | |||
| rs1321705165 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 1 | |
| rs1554085861 | 1.000 | 0.160 | 5 | 132369882 | start lost | GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- | del | 1 | |||
| rs1554085885 | 1.000 | 0.160 | 5 | 132369974 | start lost | T/G | snv | 1 | |||
| rs1554085892 | 1.000 | 0.160 | 5 | 132369985 | frameshift variant | G/- | del | 1 | |||
| rs1554085973 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 1 | |||
| rs199689597 | 1.000 | 0.160 | 5 | 132370103 | missense variant | C/A;G;T | snv | 4.1E-06; 2.9E-05 | 1 | ||
| rs202088921 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 1 | ||
| rs377767449 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/GGCTCGCCACC | delins | 1 | |||
| rs72552723 | 1.000 | 0.160 | 5 | 132370028 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs72552726 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 1 | |
| rs757711838 | 1.000 | 0.160 | 5 | 132370196 | missense variant | G/C | snv | 9.9E-06 | 1.4E-05 | 1 | |
| rs774971089 | 1.000 | 0.160 | 5 | 132369973 | start lost | A/G;T | snv | 1 |