Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs993269089 | 1.000 | 0.040 | 1 | 6385564 | missense variant | A/C;T | snv | 4.0E-06 | 1 | ||
rs2243282 | 1.000 | 0.040 | 5 | 132680862 | intron variant | C/A;T | snv | 1 | |||
rs8179190 | 1.000 | 0.040 | 5 | 132680584 | intron variant | AAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAATG/- | delins | 1 | |||
rs9282801 | 1.000 | 0.040 | 17 | 27769447 | intron variant | C/A | snv | 0.32 | 1 | ||
rs5744454 | 1.000 | 0.040 | 5 | 140633982 | upstream gene variant | T/C;G | snv | 1 | |||
rs9624472 | 0.925 | 0.040 | 22 | 24438763 | splice region variant | A/G | snv | 0.10 | 2 | ||
rs2069728 | 0.925 | 0.120 | 12 | 68154004 | intron variant | C/T | snv | 0.13 | 2 | ||
rs1463502008 | 0.925 | 0.040 | 12 | 10930275 | missense variant | G/C | snv | 4.0E-06 | 2 | ||
rs76723693 | 0.882 | 0.160 | X | 154533025 | missense variant | A/G | snv | 5.3E-04 | 1.5E-03 | 3 | |
rs2243267 | 0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv | 3 | |||
rs2243268 | 0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 | 3 | ||
rs34383331 | 0.882 | 0.040 | 22 | 23895892 | non coding transcript exon variant | T/A | snv | 0.19 | 0.18 | 3 | |
rs3138557 | 0.851 | 0.080 | 12 | 68158711 | intron variant | CGAG/- | delins | 4 | |||
rs7291467 | 0.851 | 0.160 | 22 | 37576621 | intron variant | G/A | snv | 0.49 | 4 | ||
rs1046089 | 0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 | 4 | |
rs708567 | 0.807 | 0.200 | 3 | 9918386 | missense variant | C/T | snv | 0.46 | 0.51 | 6 | |
rs2257167 | 0.807 | 0.200 | 21 | 33343393 | missense variant | G/C | snv | 0.18 | 0.16 | 7 | |
rs2069727 | 0.763 | 0.320 | 12 | 68154443 | intron variant | T/A;C | snv | 9 | |||
rs1881457 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 9 | ||
rs2234237 | 0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 | 9 | |
rs762513613 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 11 | |
rs17860508 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 11 | |||
rs2069718 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 14 | ||
rs867186 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 15 | |
rs1800630 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 17 |