Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs57408770 | 1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins | 2 | |||
rs80291436 | 1.000 | 0.080 | X | 7843706 | missense variant | T/A;C;G | snv | 4.9E-05; 0.19 | 3 | ||
rs12774070 | 0.925 | 0.120 | 10 | 70753879 | missense variant | C/A;G | snv | 0.23 | 0.19 | 4 | |
rs779196500 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs61573157 | 0.882 | 0.160 | 10 | 70760503 | missense variant | C/T | snv | 8.6E-02 | 7.5E-02 | 6 | |
rs7664413 | 0.851 | 0.160 | 4 | 176687553 | intron variant | C/T | snv | 0.24 | 0.25 | 7 | |
rs1048638 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 10 | |||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 10 | |||
rs3138053 | 0.790 | 0.280 | 14 | 35405648 | upstream gene variant | T/C | snv | 0.26 | 10 | ||
rs10036748 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 11 | |||
rs13706 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 11 | ||
rs7708392 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 13 | ||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs1047840 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 19 | |
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs942158624 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 19 | |||
rs2066827 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 21 | ||
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 | ||
rs696 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 22 | ||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 23 | |||
rs121913503 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 23 | |||
rs11134527 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 24 | ||
rs6505162 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 25 | ||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 26 |