Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 22 | |
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs121918327 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 12 | |
rs768933093 | 0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 | 10 | |
rs121908175 | 0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 | 8 | |
rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
rs786205636 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 7 | |||
rs886039800 | 0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del | 6 | |||
rs886039802 | 0.851 | 0.200 | 15 | 72712259 | stop gained | C/T | snv | 6 | |||
rs886039801 | 0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv | 6 | |||
rs1553794304 | 0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins | 6 | |||
rs751375244 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 6 | |
rs121908179 | 0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 | 5 | |
rs567573386 | 0.882 | 0.120 | 16 | 56484820 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
rs749974697 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 5 | ||
rs775081992 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 5 | ||
rs797044604 | 0.827 | 0.280 | 12 | 88086450 | stop gained | C/A | snv | 5 | |||
rs74315396 | 0.827 | 0.240 | 20 | 10413405 | missense variant | T/C | snv | 6.8E-05 | 1.1E-04 | 5 | |
rs119103286 | 0.851 | 0.280 | 14 | 88841196 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 5 | |
rs111033570 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 4 | ||
rs138043021 | 0.851 | 0.120 | 16 | 56496982 | missense variant | C/G;T | snv | 1.2E-04; 2.0E-05 | 4 | ||
rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
rs771054395 | 0.882 | 0.120 | 3 | 97784981 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 | 3 | |
rs1555202806 | 1.000 | 0.120 | 12 | 76348313 | frameshift variant | AACGCCGC/- | delins | 3 |