Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs146281367 | 0.925 | 0.160 | 7 | 107683537 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
| rs1554354787 | 0.925 | 0.160 | 7 | 107674188 | missense variant | T/C | snv | 2 | |||
| rs1554359670 | 0.925 | 0.160 | 7 | 107694650 | missense variant | C/A | snv | 2 | |||
| rs370588279 | 0.925 | 0.160 | 7 | 107663400 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-05 | 2 | ||
| rs397516414 | 0.925 | 0.160 | 7 | 107690178 | missense variant | G/A | snv | 2 | |||
| rs431905486 | 0.925 | 0.160 | 7 | 107683531 | frameshift variant | -/A | delins | 2 | |||
| rs760413427 | 0.925 | 0.160 | 7 | 107674187 | missense variant | A/G | snv | 8.0E-06 | 2 | ||
| rs80338849 | 0.925 | 0.160 | 7 | 107683538 | splice donor variant | G/A;T | snv | 2.0E-04; 1.6E-05 | 2 | ||
| rs984967571 | 0.925 | 0.160 | 7 | 107672200 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
| rs1057516243 | 1.000 | 0.160 | 7 | 107698092 | missense variant | G/T | snv | 1 | |||
| rs1057516354 | 1.000 | 0.160 | 7 | 107690212 | frameshift variant | A/- | del | 1 | |||
| rs1057516535 | 1.000 | 0.160 | 7 | 107696030 | splice donor variant | TCAGTTGTGAGT/- | delins | 1 | |||
| rs1057516636 | 1.000 | 0.160 | 7 | 107701988 | frameshift variant | C/- | delins | 1 | |||
| rs1057516658 | 1.000 | 0.160 | 7 | 107663380 | stop gained | G/A | snv | 1 | |||
| rs1057516678 | 1.000 | 0.160 | 7 | 107674963 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs1057516717 | 1.000 | 0.160 | 7 | 107695931 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516796 | 1.000 | 0.160 | 7 | 107704363 | frameshift variant | T/- | del | 1 | |||
| rs1057516881 | 1.000 | 0.160 | 7 | 107674350 | splice donor variant | T/A | snv | 1 | |||
| rs1057516988 | 1.000 | 0.160 | 7 | 107674163 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
| rs1057517000 | 1.000 | 0.160 | 7 | 107690238 | splice donor variant | G/A;T | snv | 1 | |||
| rs1057517042 | 1.000 | 0.160 | 7 | 107690147 | missense variant | C/A | snv | 1 | |||
| rs1057517161 | 1.000 | 0.160 | 7 | 107701972 | missense variant | T/A | snv | 1 | |||
| rs1057517246 | 1.000 | 0.160 | 7 | 107683290 | frameshift variant | GGAATTAA/- | delins | 1 | |||
| rs1057517298 | 1.000 | 0.160 | 7 | 107694620 | splice acceptor variant | G/T | snv | 1 | |||
| rs1060499807 | 1.000 | 0.160 | 7 | 107689200 | splice donor variant | G/- | delins | 1 |