Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131692228 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 5 | |||
rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1555452127 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 34 | |||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs375761808 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 6 | ||
rs879253745 | 0.925 | 0.240 | 6 | 157181040 | frameshift variant | AA/- | delins | 6 | |||
rs879253746 | 0.925 | 0.240 | 6 | 157200866 | frameshift variant | -/T | delins | 6 | |||
rs879253747 | 0.925 | 0.240 | 6 | 157167101 | stop gained | C/T | snv | 6 | |||
rs879253856 | 0.925 | 0.240 | 6 | 157110496 | frameshift variant | CCG/TCCGCAGCCACTCC | delins | 6 | |||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs377619533 | 1.000 | 18 | 33743312 | stop gained | C/A;T | snv | 2.8E-05 | 5 | |||
rs1559759089 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 14 | |||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs1553632357 | 0.882 | 0.120 | 3 | 41236421 | stop gained | G/T | snv | 5 | |||
rs1131692231 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 13 | |||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1057519565 | 0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv | 9 | |||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 |