Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs10754558 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 20 | |||
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs368234815 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 15 | |||
rs1063320 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 12 | |||
rs6850 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 9 | ||
rs1015164 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 8 | ||||
rs11790131 | 0.882 | 0.080 | 9 | 19469848 | intergenic variant | G/A;T | snv | 6 | |||
rs143633948 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 6 | |||
rs10892324 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 5 | ||||
rs16823858 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 5 | ||||
rs17038463 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 5 | ||||
rs17151904 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 5 | ||||
rs30388 | 0.925 | 16 | 79580219 | regulatory region variant | T/C;G | snv | 5 | ||||
rs6594357 | 0.925 | 5 | 109205522 | intergenic variant | T/A;C | snv | 5 | ||||
rs7576600 | 0.925 | 2 | 40840846 | intergenic variant | C/A;G | snv | 5 | ||||
rs753269867 | 0.925 | 0.080 | 15 | 39582202 | missense variant | G/C | snv | 6.3E-05 | 2 | ||
rs11212495 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 1 | ||||
rs1291142 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 1 | ||||
rs139292 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 1 | ||||
rs139297 | 1.000 | 22 | 39101399 | missense variant | G/A;C;T | snv | 4.0E-06; 0.47 | 1 | |||
rs1406795590 | 1.000 | 12 | 123586856 | missense variant | G/A | snv | 1 |