Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1559320299 | 0.925 | 0.160 | 2 | 222297043 | missense variant | T/A | snv | 4 | |||
| rs104893651 | 0.925 | 0.040 | 2 | 222297048 | missense variant | G/A | snv | 2 | |||
| rs1228590199 | 0.925 | 0.040 | 2 | 222221372 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs1553572967 | 0.925 | 0.040 | 2 | 222221300 | frameshift variant | -/C | delins | 2 | |||
| rs1189463428 | 1.000 | 0.040 | 2 | 222297003 | missense variant | C/T | snv | 1 | |||
| rs1356246522 | 1.000 | 0.040 | 2 | 222297089 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
| rs1553593928 | 1.000 | 0.040 | 2 | 222297081 | missense variant | G/A | snv | 1 | |||
| rs1553593965 | 1.000 | 0.040 | 2 | 222297139 | inframe deletion | GTTGGGCAGCGG/- | delins | 1 | |||
| rs1553594009 | 1.000 | 0.040 | 2 | 222297162 | frameshift variant | -/T | delins | 1 | |||
| rs1559320252 | 1.000 | 0.040 | 2 | 222297018 | frameshift variant | AGTCTCCTGGTACC/- | delins | 1 | |||
| rs1559320436 | 1.000 | 0.040 | 2 | 222297097 | inframe deletion | GGATGCCGTGGTGGGCCA/- | del | 1 | |||
| rs587776586 | 1.000 | 0.040 | 2 | 222297057 | missense variant | C/G | snv | 1 | |||
| rs777297575 | 1.000 | 0.040 | 2 | 222297053 | stop gained | G/A;C;T | snv | 4.0E-06 | 1 | ||
| rs1020175890 | 1.000 | 0.040 | 2 | 222221362 | missense variant | C/T | snv | 1 | |||
| rs1379006499 | 1.000 | 0.040 | 2 | 222294310 | intron variant | G/A;T | snv | 7.0E-06 | 1 | ||
| rs147111779 | 1.000 | 0.040 | 2 | 222202134 | stop gained | G/A;C | snv | 2.8E-05 | 2.1E-05 | 1 | |
| rs1553568831 | 1.000 | 0.040 | 2 | 222201988 | frameshift variant | -/TGTA | delins | 1 | |||
| rs1553575157 | 1.000 | 0.040 | 2 | 222232079 | missense variant | T/G | snv | 1 | |||
| rs1553575159 | 1.000 | 0.040 | 2 | 222232080 | stop gained | G/A | snv | 1 | |||
| rs1553575179 | 1.000 | 0.040 | 2 | 222232131 | frameshift variant | AATGTCAGGGTAA/- | delins | 1 | |||
| rs1553575191 | 1.000 | 0.040 | 2 | 222232178 | missense variant | A/G | snv | 1 | |||
| rs1553592703 | 1.000 | 0.040 | 2 | 222294222 | frameshift variant | -/AG | ins | 1 | |||
| rs1553592713 | 1.000 | 0.040 | 2 | 222294228 | frameshift variant | -/T | delins | 1 | |||
| rs1553592757 | 1.000 | 0.040 | 2 | 222294269 | frameshift variant | ATT/TA | delins | 1 | |||
| rs1553592766 | 1.000 | 0.040 | 2 | 222294289 | frameshift variant | C/- | del | 1 |