Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs863224925 | 1.000 | 0.040 | 10 | 102504263 | frameshift variant | C/- | del | 1 | |||
rs1291513037 | 1.000 | 0.040 | 5 | 112839481 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs878853445 | 1.000 | 0.040 | 5 | 112840008 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs139209450 | 1.000 | 0.040 | 17 | 65535650 | missense variant | G/A | snv | 1.0E-03 | 3.0E-04 | 1 | |
rs749846538 | 1.000 | 0.040 | 17 | 65537814 | missense variant | C/T | snv | 6.7E-05 | 4.2E-05 | 1 | |
rs1333957805 | 1.000 | 0.040 | 2 | 136115639 | missense variant | C/T | snv | 1 | |||
rs78380192 | 1.000 | 0.040 | 19 | 39391457 | missense variant | C/T | snv | 1 | |||
rs540045689 | 1.000 | 0.040 | 9 | 95508351 | missense variant | G/C | snv | 7.2E-06 | 1 | ||
rs28942088 | 1.000 | 0.040 | 10 | 102504196 | missense variant | C/T | snv | 1 | |||
rs1554840869 | 0.925 | 0.160 | 10 | 102504322 | frameshift variant | -/C | delins | 2 | |||
rs387906238 | 0.925 | 0.120 | 5 | 112819224 | frameshift variant | AA/- | del | 2 | |||
rs1564032829 | 0.925 | 0.160 | 9 | 95468757 | frameshift variant | T/- | delins | 2 | |||
rs56126236 | 0.925 | 0.160 | 1 | 44829444 | frameshift variant | GA/- | delins | 6.3E-05 | 2 | ||
rs17710891 | 0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 | 2 | ||
rs1060501105 | 0.925 | 0.160 | 10 | 102615266 | splice acceptor variant | A/T | snv | 2 | |||
rs1060501108 | 0.925 | 0.160 | 10 | 102549993 | frameshift variant | G/- | del | 2 | |||
rs1060501109 | 0.925 | 0.160 | 10 | 102550088 | stop gained | C/T | snv | 1.4E-05 | 2 | ||
rs1477199832 | 0.925 | 0.160 | 10 | 102597223 | frameshift variant | -/C | delins | 2 | |||
rs1554841447 | 0.925 | 0.160 | 10 | 102509168 | splice acceptor variant | G/A | snv | 2 | |||
rs1554852279 | 0.925 | 0.160 | 10 | 102592711 | frameshift variant | -/TA | delins | 2 | |||
rs1564676479 | 0.925 | 0.160 | 10 | 102550107 | splice donor variant | G/A | snv | 2 | |||
rs1564698683 | 0.925 | 0.160 | 10 | 102597207 | stop gained | G/A | snv | 2 | |||
rs1564698850 | 0.925 | 0.160 | 10 | 102597278 | frameshift variant | -/TGTGT | ins | 2 | |||
rs1564654588 | 0.925 | 0.160 | 10 | 102504327 | stop gained | A/T | snv | 2 | |||
rs17847577 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 2 |