Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs4846048 | 0.752 | 0.280 | 1 | 11786195 | 3 prime UTR variant | G/A | snv | 0.67 | 10 | ||
rs7548189 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 4 | ||
rs532545 | 0.882 | 0.160 | 1 | 20588679 | upstream gene variant | C/A;T | snv | 3 | |||
rs2612091 | 0.882 | 0.160 | 18 | 683607 | intron variant | C/T | snv | 0.63 | 3 | ||
rs1553933367 | 1.000 | 0.080 | 4 | 80018939 | frameshift variant | -/T | delins | 2 | |||
rs886039907 | 0.925 | 0.120 | 4 | 79983909 | missense variant | C/T | snv | 2 | |||
rs117876855 | 1.000 | 0.080 | 13 | 81865224 | intergenic variant | A/G | snv | 1.1E-03 | 1 | ||
rs9936750 | 1.000 | 0.080 | 16 | 55137962 | intergenic variant | T/C | snv | 0.15 | 1 | ||
rs1173040945 | 1.000 | 0.080 | 4 | 80055957 | missense variant | G/T | snv | 1 | |||
rs137852901 | 1.000 | 0.080 | 4 | 79983915 | missense variant | T/A;C | snv | 8.1E-06 | 1 | ||
rs137852902 | 1.000 | 0.080 | 4 | 80055996 | missense variant | C/T | snv | 1 | |||
rs137852903 | 1.000 | 0.080 | 4 | 80008576 | missense variant | A/C | snv | 1 | |||
rs137852904 | 1.000 | 0.080 | 4 | 80036011 | stop gained | C/A;T | snv | 1 | |||
rs137852905 | 1.000 | 0.080 | 4 | 80054342 | missense variant | A/G | snv | 1 | |||
rs1560998734 | 1.000 | 0.080 | 4 | 80018898 | frameshift variant | ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT/- | del | 1 | |||
rs546102223 | 1.000 | 0.080 | 4 | 79983878 | splice region variant | C/T | snv | 1 | |||
rs781637328 | 1.000 | 0.080 | 4 | 80036017 | missense variant | A/G | snv | 2.3E-05 | 1 | ||
rs797045028 | 1.000 | 0.080 | 4 | 79978049 | frameshift variant | G/- | delins | 1 | |||
rs797045029 | 1.000 | 0.080 | 4 | 80069491 | missense variant | A/G | snv | 1 | |||
rs886041401 | 1.000 | 0.080 | 4 | 80072427 | missense variant | A/C;G | snv | 1 | |||
rs3215400 | 1.000 | 0.080 | 1 | 20589097 | 5 prime UTR variant | C/- | delins | 0.54 | 0.56 | 1 | |
rs75267292 | 1.000 | 0.080 | 1 | 97335751 | intron variant | A/G | snv | 2.9E-02 | 1 | ||
rs2741171 | 1.000 | 0.080 | 18 | 700687 | intron variant | T/C;G | snv | 1 | |||
rs139544515 | 1.000 | 0.080 | 13 | 81823326 | intergenic variant | A/G | snv | 1.1E-03 | 1 |