Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs5882 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 35 | ||
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs63750424 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 30 | ||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs743572 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 24 | ||
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 22 | |||
rs63750264 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 17 | |||
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs6354 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 16 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs1563452941 | 0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv | 13 | |||
rs63750579 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 13 |