Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587779408 | 0.882 | 0.160 | 11 | 6391804 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 3 | |
rs758921701 | 1.000 | 0.120 | 15 | 68208180 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs154774639 | 1.000 | 0.120 | 15 | 68208186 | frameshift variant | G/- | delins | 1.4E-05 | 1 | ||
rs1194940137 | 1.000 | 0.120 | 15 | 68208187 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs1555438212 | 1.000 | 0.120 | 15 | 68208239 | stop gained | C/T | snv | 1 | |||
rs768422260 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 2 | ||
rs1555438229 | 1.000 | 0.120 | 15 | 68208288 | frameshift variant | -/AG | delins | 1 | |||
rs150363441 | 1.000 | 0.120 | 15 | 68208301 | missense variant | C/A;G;T | snv | 2.4E-05 | 1 | ||
rs1555438234 | 1.000 | 0.120 | 15 | 68208306 | frameshift variant | TGTCC/- | delins | 1 | |||
rs374681194 | 1.000 | 0.120 | 15 | 68208321 | missense variant | C/A;T | snv | 2.0E-04 | 1 | ||
rs1555438255 | 1.000 | 0.120 | 15 | 68208354 | missense variant | A/G | snv | 1 | |||
rs959199004 | 1.000 | 0.120 | 15 | 68208376 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs746753722 | 1.000 | 0.120 | 15 | 68208397 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs1555438411 | 1.000 | 0.120 | 15 | 68209637 | stop gained | C/T | snv | 1 | |||
rs104894486 | 1.000 | 0.120 | 15 | 68209639 | stop gained | G/A;C | snv | 1 | |||
rs764571295 | 1.000 | 0.120 | 15 | 68209640 | missense variant | T/C;G | snv | 1.6E-05; 2.4E-05 | 1 | ||
rs1567095153 | 1.000 | 0.120 | 15 | 68209749 | frameshift variant | -/G | delins | 1 | |||
rs1555438443 | 1.000 | 0.120 | 15 | 68209759 | stop gained | C/T | snv | 1 | |||
rs786205066 | 1.000 | 0.120 | 15 | 68211258 | splice region variant | C/A | snv | 1 | |||
rs1555438614 | 1.000 | 0.120 | 15 | 68211262 | splice donor variant | C/A | snv | 1 | |||
rs121908079 | 1.000 | 0.120 | 15 | 68211289 | inframe deletion | ATA/- | delins | 1 | |||
rs762902907 | 1.000 | 0.120 | 15 | 68211306 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs756522171 | 1.000 | 0.120 | 15 | 68211674 | splice donor variant | C/T | snv | 1.2E-05 | 2 | ||
rs919850756 | 1.000 | 0.120 | 15 | 68211685 | missense variant | G/A | snv | 1 | |||
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 |