Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs750610248 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 3 | ||
rs778139192 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 14 | ||
rs587780072 | 0.882 | 0.240 | 17 | 7674927 | missense variant | G/A;C | snv | 2.8E-05 | 3 | ||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 44 | ||
rs1057516033 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 9 | |||
rs80338758 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 12 | |||
rs1563183469 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 3 | |||
rs1569234334 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 5 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1190999960 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 9 | |||
rs1558519119 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 3 | |||
rs1057519057 | 1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv | 2 | |||
rs1057519055 | 1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv | 2 | |||
rs1057519054 | 1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv | 2 | |||
rs775565634 | 1.000 | 0.120 | 18 | 53339808 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 2 | |
rs199651452 | 1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
rs1057519056 | 1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv | 2 | |||
rs1057519053 | 1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del | 2 | |||
rs754914260 | 0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 | 3 | ||
rs1555682265 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 5 | |||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 13 | |||
rs199590018 | 0.925 | 0.120 | X | 49193294 | missense variant | G/A | snv | 1.4E-04 | 7.5E-05 | 3 | |
rs1565627707 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 3 | |||
rs1057517858 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 3 | |||
rs1064796460 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 8 |