Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs34767364 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 20 | ||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
rs2735343 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 11 | ||
rs770998368 | 0.827 | 0.240 | 13 | 102861511 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
rs1061302 | 0.827 | 0.160 | 8 | 89946194 | synonymous variant | T/C | snv | 0.35 | 0.30 | 5 | |
rs11871753 | 0.851 | 0.120 | 17 | 61779284 | intron variant | A/G | snv | 0.75 | 4 | ||
rs16945628 | 0.851 | 0.120 | 17 | 61789868 | intron variant | T/C | snv | 0.60 | 4 | ||
rs587782545 | 0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 | 4 | |
rs730881857 | 0.882 | 0.120 | 8 | 89943320 | stop gained | G/C | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs730881864 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 4 | ||
rs767215758 | 0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs767454740 | 0.882 | 0.320 | 8 | 89982736 | frameshift variant | AA/- | delins | 7.0E-06 | 4 | ||
rs7220719 | 0.882 | 0.120 | 17 | 61736921 | intron variant | A/G | snv | 0.73 | 3 | ||
rs886037979 | 0.925 | 0.040 | 17 | 43094747 | stop gained | G/A;C | snv | 2 | |||
rs1057516668 | 1.000 | 0.040 | 8 | 89946236 | frameshift variant | T/- | delins | 2 | |||
rs1057516772 | 1.000 | 0.040 | 8 | 89982719 | splice region variant | CAGGTTGGTTAC/- | delins | 2 | |||
rs1057517209 | 1.000 | 0.040 | 8 | 89958724 | splice donor variant | C/G;T | snv | 2 | |||
rs1060503467 | 1.000 | 0.040 | 8 | 89955282 | splice donor variant | C/- | delins | 2 | |||
rs1060503483 | 1.000 | 0.040 | 8 | 89953372 | frameshift variant | -/T | delins | 7.0E-06 | 2 | ||
rs1064793210 | 1.000 | 0.040 | 8 | 89984551 | frameshift variant | A/- | del | 7.0E-06 | 2 | ||
rs1178384498 | 1.000 | 0.040 | 8 | 89947853 | frameshift variant | CCTT/- | delins | 8.5E-06 | 7.0E-06 | 2 | |
rs121908973 | 1.000 | 0.040 | 8 | 89964428 | stop gained | G/A;C | snv | 2 |