Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs111478044 | 1.000 | 0.120 | 21 | 21308069 | intron variant | TA/-;TATA | delins | 1 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs7931342 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 20 | ||
rs11119608 | 0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 | 17 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs2363956 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 8 | |
rs2708861 | 0.851 | 0.120 | 7 | 47977120 | intron variant | T/G | snv | 0.46 | 6 | ||
rs7246045 | 0.882 | 0.120 | 19 | 49042825 | upstream gene variant | T/G | snv | 2.9E-02 | 5 | ||
rs2191249 | 0.882 | 0.120 | 17 | 61758503 | intron variant | T/G | snv | 0.79 | 3 | ||
rs199534 | 1.000 | 0.120 | 17 | 46746847 | intron variant | T/G | snv | 0.13 | 2 | ||
rs730882007 | 1.000 | 0.120 | 17 | 7674212 | missense variant | T/G | snv | 2 | |||
rs1567547687 | 1.000 | 0.120 | 17 | 7673780 | missense variant | T/G | snv | 1 | |||
rs169225 | 1.000 | 0.120 | 20 | 22393040 | intron variant | T/G | snv | 0.42 | 1 | ||
rs6134303 | 1.000 | 0.120 | 20 | 11586401 | intergenic variant | T/G | snv | 0.67 | 1 | ||
rs7969255 | 1.000 | 0.120 | 12 | 70148026 | intron variant | T/G | snv | 0.82 | 1 | ||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 34 | ||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 | ||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 19 | |||
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 | ||
rs730882026 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 15 |