Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs153109 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 37 | ||
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 | |||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 30 | |||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 25 | |||
rs1063192 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 24 | |||
rs8034191 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 24 | ||
rs762551 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 23 | ||
rs28931614 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 21 | |||
rs2031920 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 20 | ||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs2854744 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 20 | ||
rs4143815 | 0.689 | 0.400 | 9 | 5468257 | 3 prime UTR variant | G/C | snv | 0.23 | 20 | ||
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs7804372 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 19 | ||
rs2276109 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 18 | ||
rs28360071 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 18 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs2157719 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 17 | ||
rs3807987 | 0.732 | 0.280 | 7 | 116539780 | intron variant | G/A | snv | 7.6E-02 | 17 | ||
rs2107425 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 16 | |||
rs7003908 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 16 | ||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs1141718 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 15 |