Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387907329 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 10 | ||
rs672601368 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 10 | |||
rs1131692230 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 9 | |||
rs1057518934 | 0.851 | 0.240 | 15 | 28211095 | frameshift variant | G/- | delins | 8 | |||
rs1559307932 | 0.807 | 0.360 | 2 | 231737190 | frameshift variant | -/C | ins | 8 | |||
rs746800707 | 0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 8 | ||
rs1057518963 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 6 | |||
rs1114167295 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 6 | |||
rs1114167296 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 6 | |||
rs730882249 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs1057519439 | 1.000 | 0.120 | 2 | 195787135 | missense variant | A/G | snv | 5 | |||
rs1114167297 | 0.851 | 0.160 | 10 | 32019912 | missense variant | T/C | snv | 5 | |||
rs797045905 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 5 | |||
rs1114167298 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 5 | ||
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs61751035 | 0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs1223073957 | 0.827 | 0.240 | 19 | 49835897 | frameshift variant | C/- | delins | 1.2E-05 | 1.4E-05 | 12 | |
rs886041094 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 7 | |
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs146539065 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 34 | |
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs200473652 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 7 |