Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397517112 | 1.000 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins | 1 | |||
rs397516975 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs397517116 | 1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins | 1 | |||
rs397517114 | 1.000 | 0.080 | 7 | 55181323 | protein altering variant | -/CCCACG | delins | 1 | |||
rs397516976 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins | 1 | |||
rs1554350366 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 1 | |||
rs397516982 | 1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins | 1 | |||
rs397516981 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 1 | |||
rs397517111 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 1 | |||
rs397516977 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 1 | |||
rs727502902 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 4 | ||
rs397517106 | 1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins | 1 | |||
rs1555618025 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 1 | |||
rs397516979 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 2 | |||
rs397516978 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 1 | |||
rs1057519729 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 2 | |||
rs863225283 | 0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv | 2 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 3 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 13 | |||
rs587782289 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 12 | |||
rs281864719 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 2 | |||
rs121913246 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 4 | |||
rs121912470 | 0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv | 1 |