Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 | ||
rs35887622 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 8 | ||
rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 7 | ||
rs121912557 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 4 | |||
rs759504704 | 0.882 | 0.200 | 11 | 78436786 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs121908073 | 0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 | 3 | ||
rs121908144 | 0.882 | 0.240 | 1 | 54999221 | missense variant | T/C | snv | 2.0E-05 | 3 | ||
rs1244688796 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
rs202138002 | 0.882 | 0.120 | 12 | 132621535 | missense variant | G/A;C | snv | 1.8E-05 | 3 | ||
rs483352866 | 0.882 | 0.240 | 16 | 2496681 | missense variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs565224393 | 0.882 | 0.200 | 11 | 78469304 | stop gained | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs779124360 | 0.925 | 0.200 | 21 | 34449585 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
rs1057519601 | 0.925 | 0.120 | 17 | 18171764 | frameshift variant | G/CCAGGCCCGTGCAGCTC | delins | 2 | |||
rs1057519603 | 0.925 | 0.120 | 17 | 18126856 | missense variant | T/C | snv | 2 | |||
rs1057519604 | 0.925 | 0.120 | 17 | 18148937 | frameshift variant | G/- | delins | 2 | |||
rs1057519606 | 0.925 | 0.120 | 17 | 18159349 | splice donor variant | T/C | snv | 2 | |||
rs1057519607 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 2 | |||
rs1064797088 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 2 | |||
rs1185695012 | 0.925 | 0.200 | 9 | 114403898 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1283780488 | 0.925 | 0.200 | 11 | 78469304 | stop gained | -/T | delins | 2 | |||
rs200089613 | 0.925 | 0.280 | 5 | 140698056 | missense variant | G/A;T | snv | 8.0E-05; 3.7E-04 | 2 | ||
rs387906893 | 0.925 | 0.120 | 12 | 122216808 | missense variant | G/A | snv | 2 | |||
rs397508115 | 0.925 | 0.200 | 11 | 2570683 | frameshift variant | C/GG | delins | 2 | |||
rs397514599 | 0.925 | 0.120 | 2 | 55656148 | missense variant | T/C | snv | 2 | |||
rs397517255 | 0.925 | 0.200 | 9 | 114424483 | stop gained | G/A | snv | 2 |