Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13194491 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 4 | ||
rs987710 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 4 | ||
rs1554544862 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 1 | |||
rs33950507 | 0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 | 7 | ||
rs41469945 | 0.925 | 0.080 | 16 | 173581 | missense variant | T/C;G | snv | 3 | |||
rs121918367 | 0.827 | 0.080 | 12 | 50999214 | missense variant | C/A;T | snv | 6.0E-05 | 2 | ||
rs3811647 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 12 | ||
rs7385804 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 10 | ||
rs104894816 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 4 | |||
rs776035233 | 0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs779114194 | 0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 | 4 | ||
rs104894808 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 3 | |||
rs104894815 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 3 | |||
rs267607201 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 2 | |||
rs5744256 | 0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 | 1 | ||
rs1057516674 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 5 | |||
rs878853315 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 5 | |||
rs747506979 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 4 | ||
rs1050829 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 2 | ||
rs1555545033 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 2 | |||
rs1934951 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 1 | ||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 8 | |
rs1060499688 | 0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv | 4 | |||
rs41518645 | 0.925 | 0.200 | MT | 15257 | missense variant | G/A | snv | 1 | |||
rs7270101 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 1 |