Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3736228 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 13 | |
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs876657421 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 11 | |||
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs104893941 | 0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 | 9 | |
rs2073617 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 9 | ||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs863225045 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 15 | |||
rs72645347 | 0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv | 10 | |||
rs235768 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 8 | ||
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 | |
rs1423415130 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 6 | ||
rs1555222973 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 6 | |||
rs4988321 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 4 | ||
rs749292 | 0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 | 4 | ||
rs751093906 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 8 | ||
rs121908668 | 0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv | 5 | |||
rs1569508922 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 5 | |||
rs4355801 | 0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv | 5 | |||
rs2273073 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 3 | ||
rs28360457 | 0.882 | 0.200 | 12 | 121175426 | missense variant | G/A | snv | 8.6E-03 | 1.1E-02 | 3 | |
rs527624522 | 0.925 | 0.080 | 11 | 44107723 | missense variant | C/T | snv | 6.4E-05 | 2.1E-05 | 5 | |
rs1057516036 | 0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv | 4 | |||
rs9525641 | 0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 | 3 |