| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057521562 | 1.000 | 0.120 | 16 | 2063058 | splice region variant | G/A;C | snv | 1 | |||
| rs1060499647 | 1.000 | 0.120 | 16 | 2064410 | frameshift variant | C/- | del | 1 | |||
| rs1060499676 | 1.000 | 0.120 | 16 | 2088234 | stop gained | C/G | snv | 1 | |||
| rs1060500914 | 1.000 | 0.120 | 16 | 2076087 | frameshift variant | TCTG/- | delins | 1 | |||
| rs1060500924 | 1.000 | 0.120 | 16 | 2054380 | stop gained | G/T | snv | 1 | |||
| rs1060500931 | 0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv | 2 | |||
| rs1060500934 | 1.000 | 0.120 | 16 | 2071845 | frameshift variant | C/- | delins | 1 | |||
| rs1060500938 | 1.000 | 0.120 | 16 | 2074383 | frameshift variant | CT/- | del | 1 | |||
| rs1060500950 | 1.000 | 0.120 | 16 | 2086833 | frameshift variant | AATGACT/- | del | 1 | |||
| rs1060500972 | 1.000 | 0.120 | 16 | 2085027 | splice donor variant | G/A;T | snv | 1 | |||
| rs1064792923 | 1.000 | 0.120 | 16 | 2088461 | frameshift variant | TCCAACCCCAGCCTAC/- | delins | 1 | |||
| rs1064796970 | 1.000 | 0.120 | 16 | 2086818 | missense variant | G/A | snv | 1 | |||
| rs1131691602 | 1.000 | 0.120 | 16 | 2054317 | stop gained | A/T | snv | 1 | |||
| rs1131691965 | 0.882 | 0.200 | 16 | 2074394 | splice region variant | G/C | snv | 3 | |||
| rs118203490 | 1.000 | 0.120 | 9 | 132911103 | stop gained | C/T | snv | 1 | |||
| rs1202939879 | 1.000 | 0.120 | 16 | 2080325 | stop gained | T/C;G | snv | 4.0E-06 | 1 | ||
| rs121964862 | 1.000 | 0.120 | 16 | 2063042 | stop gained | C/T | snv | 1 | |||
| rs137853977 | 1.000 | 0.120 | 16 | 2057156 | frameshift variant | AT/- | del | 1 | |||
| rs137853983 | 1.000 | 0.120 | 16 | 2062520 | inframe deletion | CCT/- | delins | 1 | |||
| rs137853995 | 1.000 | 0.120 | 16 | 2074254 | missense variant | T/C | snv | 1 | |||
| rs137854001 | 1.000 | 0.120 | 16 | 2081771 | frameshift variant | C/- | delins | 1 | |||
| rs137854018 | 1.000 | 0.120 | 16 | 2079581 | frameshift variant | CA/- | delins | 1 | |||
| rs137854020 | 1.000 | 0.120 | 16 | 2057160 | frameshift variant | -/C | delins | 1 | |||
| rs137854046 | 1.000 | 0.120 | 16 | 2084591 | frameshift variant | -/G | delins | 1 | |||
| rs137854076 | 1.000 | 0.120 | 16 | 2079348 | frameshift variant | TG/- | delins | 1 |