Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5015480 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 9 | ||
rs7169289 | 1.000 | 0.040 | 15 | 57951485 | downstream gene variant | G/A | snv | 0.83 | 2 | ||
rs1956545 | 14 | 64386187 | intron variant | C/T | snv | 0.92 | 1 | ||||
rs452159 | 1.000 | 0.040 | 20 | 44642461 | intron variant | G/T | snv | 0.28 | 2 | ||
rs2276731 | 3 | 126155545 | non coding transcript exon variant | C/T | snv | 0.83 | 0.83 | 1 | |||
rs2305225 | 3 | 126131662 | intron variant | G/A | snv | 0.64 | 1 | ||||
rs4646733 | 3 | 126131258 | intron variant | C/T | snv | 0.64 | 1 | ||||
rs766422988 | 3 | 49417962 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |||
rs11247593 | 1 | 26725589 | intron variant | G/A | snv | 0.30 | 1 | ||||
rs749437638 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 14 | |
rs3733890 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 16 | |
rs777628969 | 19 | 12940603 | missense variant | A/C | snv | 8.0E-06 | 1 | ||||
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 40 | ||
rs1237063529 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 13 | ||
rs2336573 | 19 | 8302825 | missense variant | C/T | snv | 5.9E-02 | 0.12 | 1 | |||
rs9426 | 19 | 8302274 | 3 prime UTR variant | C/T | snv | 5.5E-02 | 0.12 | 1 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 25 | |
rs1445081098 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 17 | ||
rs778976254 | 1.000 | 14 | 58638335 | missense variant | C/T | snv | 6.0E-04 | 2.1E-05 | 2 | ||
rs562920966 | 14 | 58645694 | missense variant | A/T | snv | 8.0E-06 | 1 | ||||
rs771174392 | 0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv | 3 | |||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1206846668 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 16 | ||
rs368939818 | 0.763 | 0.280 | 11 | 49156734 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 13 |