Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs587778883 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 7 | |||
rs17103265 | 0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins | 3 | |||
rs5030625 | 0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 | 3 | ||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs4652 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 12 | |
rs6498486 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 8 | ||
rs115797771 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 6 | ||
rs12304647 | 0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 | 6 | ||
rs4796030 | 0.827 | 0.120 | 17 | 35003131 | 3 prime UTR variant | A/C | snv | 0.66 | 6 | ||
rs2231231 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 5 | |
rs1917799 | 0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 | 4 | ||
rs2709800 | 0.882 | 0.120 | 7 | 30473155 | intron variant | A/C | snv | 0.53 | 4 | ||
rs9972882 | 0.925 | 0.080 | 17 | 39651445 | intron variant | A/C | snv | 0.66 | 4 | ||
rs4635002 | 0.925 | 0.080 | 10 | 127064415 | intron variant | A/C | snv | 0.92 | 3 | ||
rs6882903 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 2 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs213210 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 11 | |||
rs1042229 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 7 | ||
rs5273 | 0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 | 6 | |
rs36012910 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 2 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 |