Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1057517840 | 0.925 | 0.200 | 17 | 7674904 | frameshift variant | CT/- | delins | 3 | |||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 23 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 22 | |||
rs1057519988 | 0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv | 10 | |||
rs1057519995 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 9 | |||
rs1057519997 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 9 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs1064793881 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 3 | |||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
rs1064796722 | 1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1131691022 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 6 | |||
rs1131691029 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 6 | |||
rs1131691039 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 5 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs11540654 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 4 | ||
rs11575997 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 2 | |||
rs1195793509 | 1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins | 1 | |||
rs1202793339 | 1.000 | 0.120 | 17 | 7674972 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 1 | ||
rs1206165503 | 0.925 | 0.160 | 17 | 7675175 | stop gained | C/T | snv | 2 | |||
rs1212996409 | 1.000 | 0.120 | 17 | 7675197 | stop gained | T/A;C | snv | 1 | |||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 53 | ||
rs121912652 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 4 | |||
rs121912654 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 21 |