Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 | ||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs776906066 | 1.000 | 0.080 | 11 | 119206455 | missense variant | G/A | snv | 1 | |||
rs267606706 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 9 | ||
rs387906666 | 0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv | 5 | |||
rs727504426 | 0.882 | 0.320 | 11 | 119278508 | splice acceptor variant | A/G | snv | 3 | |||
rs140461950 | 1.000 | 0.080 | 8 | 122951616 | missense variant | G/A;T | snv | 8.8E-05 | 3.5E-05 | 1 | |
rs121918546 | 1.000 | 0.080 | 5 | 143041855 | missense variant | A/C;G | snv | 4.3E-06; 4.3E-06 | 1 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs17851045 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs112445441 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 32 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs1240948789 | 1.000 | 0.080 | 22 | 30889607 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs397514641 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 11 | |
rs778405030 | 0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 6 | ||
rs267606602 | 0.925 | 0.160 | 17 | 31221842 | splice region variant | A/G | snv | 2 | |||
rs1567847905 | 0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv | 5 | |||
rs886041347 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 13 | |||
rs1064794277 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 5 | |||
rs137854556 | 0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 | 5 |