Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 7 | ||
rs104893775 | 0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv | 7 | |||
rs111033364 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 7 | |
rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
rs886039800 | 0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del | 6 | |||
rs886039801 | 0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv | 6 | |||
rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 | |
rs121918563 | 0.827 | 0.120 | 6 | 42721781 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 6 | |
rs61755793 | 0.807 | 0.080 | 6 | 42721820 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs61755798 | 0.827 | 0.080 | 6 | 42704564 | missense variant | G/A;C | snv | 6 | |||
rs104893769 | 0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs61752871 | 0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 6 | |
rs387906980 | 0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 | 6 | |
rs121908179 | 0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 | 5 | |
rs749974697 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 5 | ||
rs111033267 | 0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 | 5 | ||
rs200691042 | 0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 | 5 | |
rs104893967 | 0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv | 5 | |||
rs121912550 | 0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs773372123 | 0.851 | 0.160 | 16 | 1587209 | missense variant | C/T | snv | 2.0E-05 | 5 | ||
rs61755771 | 0.827 | 0.160 | 6 | 42722199 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 5 | |
rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
rs397515359 | 0.827 | 0.200 | 11 | 17531408 | frameshift variant | -/G | delins | 1.8E-04 | 5 | ||
rs201527662 | 0.827 | 0.200 | 1 | 216246592 | missense variant | A/C | snv | 2.1E-04 | 6.3E-05 | 5 |