Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12239046 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 9 | ||||
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs17592479 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 4 | ||||
rs201950044 | 1 | 161639782 | intergenic variant | G/T | snv | 5 | |||||
rs2208568 | 1 | 235926855 | intergenic variant | T/A;C;G | snv | 5 | |||||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 24 | ||
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs34293785 | 1 | 65671509 | intergenic variant | T/C | snv | 4 | |||||
rs34599082 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 8 | |||
rs3917914 | 1 | 36482287 | intron variant | G/A;T | snv | 5 | |||||
rs3917932 | 1 | 36478315 | intron variant | C/G | snv | 0.59 | 5 | ||||
rs4844622 | 1 | 207860984 | intron variant | C/T | snv | 0.19 | 4 | ||||
rs663045 | 1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 | 5 | ||||
rs66538782 | 1 | 46130565 | intron variant | A/-;AA;AAA | delins | 2 | |||||
rs7537229 | 1 | 56440602 | intron variant | G/A | snv | 0.92 | 4 | ||||
rs7550207 | 1 | 159205095 | intron variant | T/C | snv | 0.19 | 5 | ||||
rs778387 | 1 | 56158423 | intron variant | C/A;G;T | snv | 4 | |||||
rs9436747 | 1 | 65445924 | intron variant | T/C | snv | 0.56 | 5 | ||||
rs10173538 | 2 | 159712765 | intron variant | C/G;T | snv | 5 | |||||
rs10206089 | 2 | 61476184 | intron variant | G/A | snv | 4 | |||||
rs114050631 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 5 | ||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs139707092 | 2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins | 5 | |||||
rs145013566 | 2 | 218297998 | intron variant | -/C | ins | 5 |