Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1032242817 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 17 | |
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs138659167 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 20 | ||
rs141498002 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 8 | ||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs1554642022 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 8 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs180177039 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 12 | |||
rs199476133 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 18 | |||
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs387906819 | 0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv | 6 | |||
rs397516827 | 0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv | 9 | |||
rs397517148 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 27 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs61752129 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 14 | |||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs759125480 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 16 | ||
rs771237928 | 0.752 | 0.280 | 1 | 119915813 | frameshift variant | G/-;GG | delins | 14 | |||
rs786200952 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 13 |