Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5744256 | 0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 | 6 | ||
rs776035233 | 0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs104894808 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 4 | |||
rs779114194 | 0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 | 4 | ||
rs6051702 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 3 | ||
rs760370 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 3 | ||
rs775910328 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs866082104 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 3 | |||
rs11854484 | 0.925 | 0.120 | 15 | 45253280 | missense variant | C/T | snv | 0.47 | 0.45 | 2 | |
rs1196547982 | 0.925 | 0.120 | 4 | 153703650 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1470452230 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 2 | ||
rs7072268 | 0.925 | 0.120 | 10 | 69340157 | intron variant | T/C | snv | 0.54 | 2 | ||
rs1555545033 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 7 | |||
rs3775296 | 0.851 | 0.160 | 4 | 186076613 | splice region variant | C/A | snv | 0.18 | 0.18 | 6 | |
rs1050829 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 5 | ||
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 | |||
rs1934951 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 4 | ||
rs747506979 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 4 | ||
rs2071346 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 3 | ||
rs4645948 | 0.882 | 0.160 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 3 | ||
rs373533 | 0.925 | 0.160 | 19 | 6919613 | missense variant | A/C | snv | 0.77 | 0.73 | 2 | |
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
rs7270101 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 10 | |
rs708567 | 0.807 | 0.200 | 3 | 9918386 | missense variant | C/T | snv | 0.46 | 0.51 | 6 |