Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28936415 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 22 | |
rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
rs1565930588 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 19 | |||
rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 17 | |
rs121908457 | 0.882 | 0.120 | 5 | 137870815 | missense variant | C/T | snv | 13 | |||
rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 11 | |||
rs778768583 | 0.851 | 0.120 | 15 | 42410958 | missense variant | G/C | snv | 8.0E-06 | 10 | ||
rs886042108 | 0.851 | 0.120 | 15 | 42409930 | splice acceptor variant | G/C;T | snv | 10 | |||
rs58034145 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 10 | |||
rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 9 | ||
rs58932704 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 8 | |||
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
rs1555421871 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 6 | |||
rs116840805 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 6 | |||
rs1563083759 | 0.925 | 0.120 | 7 | 128957260 | frameshift variant | G/- | del | 6 | |||
rs869025337 | 0.925 | 0.120 | 6 | 105124593 | missense variant | G/A;C | snv | 4.0E-06 | 5 | ||
rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
rs142336618 | 0.827 | 0.120 | 3 | 49723648 | missense variant | C/G | snv | 4.5E-06; 7.0E-04 | 5.3E-04 | 5 | |
rs202247792 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 5 | ||
rs59332535 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 5 | |||
rs60458016 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 5 | |||
rs200198778 | 0.827 | 0.160 | 14 | 77278764 | missense variant | T/C | snv | 5.6E-05 | 9.8E-05 | 5 |