Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs878853250 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 37 | |||
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs63750687 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 33 | |||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs11868035 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 14 | |
rs1555507479 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 12 | |||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs431905511 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 9 | |||
rs28933383 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 8 | |||
rs80338792 | 0.827 | 0.160 | 17 | 63943846 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs356220 | 0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv | 3 | |||
rs200660418 | 1.000 | 0.040 | 12 | 40310449 | missense variant | C/A;G;T | snv | 3 | |||
rs199474750 | 1.000 | 0.120 | 17 | 31258502 | missense variant | G/A;C;T | snv | 3 | |||
rs868694193 | 1.000 | 0.120 | 1 | 204161355 | missense variant | C/T | snv | 4.1E-06 | 2 | ||
rs199476305 | 1.000 | 0.040 | 15 | 63044096 | missense variant | G/C | snv | 2 | |||
rs730881131 | 1.000 | 0.040 | 15 | 63057036 | missense variant | G/C | snv | 2 |