Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387906560 | 0.925 | 0.160 | 9 | 12704545 | frameshift variant | A/- | delins | 2 | |||
rs62635045 | 0.925 | 0.160 | X | 9741349 | missense variant | A/C | snv | 2 | |||
rs28940881 | 0.776 | 0.200 | 11 | 89177954 | start lost | A/G | snv | 6.4E-05 | 5.6E-05 | 16 | |
rs376823382 | 0.827 | 0.200 | 11 | 89284940 | missense variant | A/G | snv | 1.9E-04 | 2.2E-04 | 8 | |
rs1384042381 | 1.000 | 0.160 | 15 | 27957712 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs61754388 | 0.827 | 0.160 | 11 | 89227904 | missense variant | C/A | snv | 3.4E-04 | 5.0E-04 | 6 | |
rs1057520005 | 0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv | 14 | |||
rs62645904 | 0.827 | 0.160 | 11 | 89191214 | stop gained | C/A;T | snv | 1.9E-04 | 8 | ||
rs104894130 | 0.925 | 0.160 | 9 | 12695626 | stop gained | C/G | snv | 6.0E-05 | 2.1E-04 | 3 | |
rs1800407 | 0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 | 10 | |
rs104894313 | 0.807 | 0.160 | 11 | 89284805 | missense variant | C/T | snv | 3.8E-03; 4.0E-06 | 3.7E-03 | 7 | |
rs141949212 | 0.882 | 0.160 | 15 | 27845052 | missense variant | C/T | snv | 4.0E-05 | 2.0E-04 | 5 | |
rs28940876 | 0.827 | 0.160 | 11 | 89178195 | missense variant | C/T | snv | 8.4E-05 | 1.7E-04 | 5 | |
rs748527966 | 1.000 | 0.160 | 3 | 69965154 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs749979474 | 1.000 | 0.160 | 11 | 89284852 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 1 | |
rs1126809 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 29 | |
rs61753253 | 0.925 | 0.160 | 11 | 89178278 | missense variant | G/A | snv | 5.2E-05 | 8.4E-05 | 7 | |
rs121908011 | 0.827 | 0.160 | 11 | 89227933 | missense variant | G/A | snv | 9.2E-05 | 3.5E-05 | 6 | |
rs61753185 | 0.882 | 0.160 | 11 | 89178183 | missense variant | G/A | snv | 8.4E-05 | 5.6E-05 | 3 | |
rs140365820 | 0.925 | 0.160 | 9 | 12704706 | splice donor variant | G/A | snv | 5.6E-05 | 2.0E-04 | 2 | |
rs144812594 | 0.925 | 0.160 | 15 | 27986615 | missense variant | G/A | snv | 6.4E-05 | 2.3E-04 | 2 | |
rs1351361600 | 1.000 | 0.160 | 5 | 33944733 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs104894314 | 0.790 | 0.160 | 11 | 89191205 | missense variant | G/A;T | snv | 8.0E-06; 9.2E-05 | 8 | ||
rs61754381 | 0.790 | 0.200 | 11 | 89227816 | splice region variant | T/A;C | snv | 9.5E-04; 8.0E-06 | 8 | ||
rs62635042 | 1.000 | 0.160 | X | 9741444 | missense variant | T/A;C | snv | 1 |