Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 35 | ||
rs635634 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 22 | |||
rs174548 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 17 | |||
rs2519093 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 16 | |||
rs62324212 | 0.724 | 0.240 | 4 | 122639784 | intron variant | C/A;G | snv | 15 | |||
rs7705526 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 15 | |||
rs112505971 | 10 | 27068541 | intron variant | A/C;G | snv | 13 | |||||
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs3840870 | 17 | 50184820 | 3 prime UTR variant | -/CTTG | delins | 13 | |||||
rs35188965 | 5 | 1104823 | intron variant | C/G;T | snv | 12 | |||||
rs440446 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 8 | ||
rs8179 | 0.882 | 0.080 | 7 | 92606850 | 3 prime UTR variant | T/A;C;G | snv | 8 | |||
rs9532434 | 0.807 | 0.120 | 13 | 39781776 | intron variant | T/A;C | snv | 8 | |||
rs10810657 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 7 | |||
rs36115365 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 7 | |||
rs60600003 | 0.827 | 0.120 | 7 | 37342861 | intron variant | T/C;G | snv | 7 | |||
rs10409243 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 6 | |||||
rs16903574 | 0.882 | 0.120 | 5 | 14610200 | missense variant | C/A;G | snv | 4.0E-06; 5.6E-02 | 6 | ||
rs2239630 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 6 | |||
rs2979489 | 8 | 30423317 | intron variant | G/A;C | snv | 6 | |||||
rs34208856 | 6 | 135099930 | intron variant | TT/-;T;TTT;TTTTTTTTT | delins | 6 | |||||
rs4821544 | 0.925 | 0.040 | 22 | 36862461 | intron variant | T/A;C | snv | 6 | |||
rs10173538 | 2 | 159712765 | intron variant | C/G;T | snv | 5 |