Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs764562217 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 3 | |
rs35117667 | 1.000 | 17 | 7676278 | splice region variant | G/A | snv | 2.1E-03 | 8.3E-03 | 1 | ||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 3 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 7 | |||
rs866419664 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 5 | |||
rs764803020 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 5 | ||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 4 | |||
rs1131691022 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs1321845532 | 0.851 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 2 | |||||
rs1427471466 | 1.000 | 0.080 | 17 | 7674183 | frameshift variant | G/- | delins | 1 | |||
rs749817236 | 1.000 | 0.040 | 17 | 7669624 | frameshift variant | C/- | delins | 1 | |||
rs869054324 | 17 | 7676171 | frameshift variant | C/- | del | 1 | |||||
rs786202055 | 17 | 7673714 | frameshift variant | C/- | delins | 1 | |||||
rs1462159134 | 1.000 | 0.120 | 17 | 7673764 | frameshift variant | CC/T | delins | 1 | |||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 22 | ||
rs17879353 | 0.925 | 0.040 | 17 | 7668996 | 3 prime UTR variant | G/C;T | snv | 2 | |||
rs17884306 | 0.925 | 0.120 | 17 | 7668783 | 3 prime UTR variant | C/T | snv | 5.1E-02 | 2 | ||
rs989692988 | 17 | 7676023 | splice donor variant | A/C | snv | 8.0E-06 | 1 | ||||
rs1642785 | 0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 | 6 | ||
rs9895829 | 0.807 | 0.080 | 17 | 7675361 | 5 prime UTR variant | A/G | snv | 7.4E-02 | 6 | ||
rs2909430 | 0.827 | 0.200 | 17 | 7675327 | 5 prime UTR variant | C/G;T | snv | 5 | |||
rs35850753 | 0.807 | 0.080 | 17 | 7675353 | 5 prime UTR variant | C/T | snv | 1.3E-02 | 3 | ||
rs75821853 | 1.000 | 0.080 | 17 | 7675397 | 5 prime UTR variant | T/C | snv | 0.18 | 1 |