Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 28 | |||
rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
rs1555154946 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 16 | |||
rs1057518907 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 16 | |||
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs137853027 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 15 | |
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs1555528356 | 0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv | 13 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs1057520063 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 13 | |||
rs775769424 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 11 | ||
rs863225094 | 0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv | 10 | |||
rs886039795 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 10 | |||
rs398123425 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 9 | |||
rs371011047 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 9 | ||
rs764926983 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 9 |