Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs534828104 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 2 | |||
rs556581174 | 0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv | 2 | |||
rs751279776 | 0.925 | 0.080 | 7 | 44149986 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs764437500 | 0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs776793516 | 0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 | 2 | ||
rs10010131 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 7 | |
rs13412852 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 4 | ||
rs561017686 | 0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 | 4 | ||
rs1446306735 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 3 | |||
rs193929375 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 3 | |||
rs369841551 | 0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
rs59852838 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 3 | |
rs10515074 | 0.925 | 0.120 | 5 | 68270365 | intron variant | A/G;T | snv | 2 | |||
rs9906827 | 0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv | 2 | |||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs121909244 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs953686324 | 0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 | 7 | |
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
rs4580704 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 13 | ||
rs1387153 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 10 | |||
rs80356618 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 8 | |||
rs518147 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 7 | |||
rs137853238 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 6 |