Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1568662687 | 1.000 | 0.120 | 20 | 10405482 | frameshift variant | A/- | delins | 1 | |||
rs1306231185 | 0.925 | 0.120 | 20 | 10407645 | stop gained | -/TTCA | delins | 4.0E-06 | 7.0E-06 | 2 | |
rs1396840386 | 1.000 | 0.120 | 20 | 10407653 | missense variant | C/A | snv | 4.0E-06 | 1 | ||
rs113994196 | 1.000 | 0.120 | 20 | 10412638 | frameshift variant | -/CAGG | delins | 1 | |||
rs74315397 | 0.925 | 0.120 | 20 | 10412723 | stop gained | A/C;G;T | snv | 4.0E-05 | 2 | ||
rs1568666460 | 1.000 | 0.120 | 20 | 10413023 | stop gained | A/T | snv | 1 | |||
rs113994195 | 1.000 | 0.120 | 20 | 10413074 | frameshift variant | ACTACTAAAGT/- | delins | 1 | |||
rs1297985227 | 0.925 | 0.120 | 20 | 10413220 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs74315396 | 0.827 | 0.240 | 20 | 10413405 | missense variant | T/C | snv | 6.8E-05 | 1.1E-04 | 5 | |
rs515726134 | 0.925 | 0.120 | 10 | 110900466 | stop gained | A/C | snv | 7.2E-06 | 1.4E-05 | 2 | |
rs111033571 | 0.925 | 0.120 | 9 | 116698130 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs759376012 | 1.000 | 0.120 | 9 | 116698849 | frameshift variant | A/- | delins | 1.6E-05 | 1 | ||
rs111033570 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 3 | ||
rs863224529 | 1.000 | 0.120 | 4 | 121828172 | frameshift variant | TGC/A | delins | 1 | |||
rs1560638613 | 1.000 | 0.120 | 4 | 121828618 | splice donor variant | C/A | snv | 1 | |||
rs991365297 | 1.000 | 0.120 | 4 | 121835242 | stop gained | A/G;T | snv | 1 | |||
rs773139166 | 1.000 | 0.120 | 4 | 121845671 | stop gained | TA/- | delins | 5.2E-05 | 4.9E-05 | 1 | |
rs1560658189 | 1.000 | 0.120 | 4 | 121853042 | stop gained | T/A | snv | 1 | |||
rs760165634 | 1.000 | 0.120 | 4 | 121854707 | frameshift variant | CTCT/- | delins | 5.2E-05 | 4.9E-05 | 1 | |
rs119466002 | 0.882 | 0.120 | 4 | 121854790 | missense variant | G/A | snv | 8.0E-06 | 6.3E-05 | 2 | |
rs1553933472 | 1.000 | 0.120 | 4 | 121855547 | frameshift variant | -/TT | ins | 1 | |||
rs863224530 | 0.925 | 0.120 | 4 | 121859130 | frameshift variant | GT/- | del | 2 | |||
rs565073445 | 1.000 | 0.120 | 4 | 122741957 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs1381368546 | 1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 | 1 | ||
rs1397714772 | 0.925 | 0.120 | 4 | 122742155 | frameshift variant | TT/- | delins | 1.4E-05 | 2 |