Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs1557781252 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 33 | |||
rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
rs1563183492 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 32 | |||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 29 | |||
rs1554121443 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 29 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 24 | |||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 23 | |||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
rs1057519946 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 17 | |||
rs121913348 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 16 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 14 | |||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs587778779 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 14 | |||
rs397507483 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 13 | |||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 |