Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3820198 | 1.000 | 0.040 | 1 | 53326979 | missense variant | A/C | snv | 0.40 | 0.50 | 1 | |
rs5996696 | 1.000 | 0.040 | 22 | 24431654 | intron variant | A/C | snv | 0.12 | 1 | ||
rs6460033 | 1.000 | 0.040 | 7 | 72798898 | intron variant | A/C | snv | 0.69 | 1 | ||
rs850084 | 1.000 | 0.040 | 7 | 29731981 | non coding transcript exon variant | A/C | snv | 0.27 | 1 | ||
rs967582 | 1.000 | 0.040 | 1 | 50116500 | intron variant | A/C | snv | 0.42 | 1 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs12344615 | 0.851 | 0.080 | 9 | 83666280 | intron variant | A/C;G | snv | 4 | |||
rs466448 | 0.925 | 0.040 | 21 | 26171790 | intron variant | A/C;G | snv | 4 | |||
rs7521 | 0.925 | 0.080 | 17 | 46028029 | 3 prime UTR variant | A/C;G | snv | 3 | |||
rs9347683 | 0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv | 3 | |||
rs116074753 | 1.000 | 0.040 | 2 | 232794835 | missense variant | A/C;G | snv | 3.9E-04; 8.0E-06 | 2 | ||
rs849898 | 0.925 | 0.040 | 1 | 227966216 | intergenic variant | A/C;G | snv | 2 | |||
rs2619364 | 1.000 | 0.040 | 4 | 89838736 | non coding transcript exon variant | A/C;G | snv | 1 | |||
rs2740594 | 1.000 | 0.040 | 8 | 11849665 | intron variant | A/C;G | snv | 1 | |||
rs2970848 | 1.000 | 0.040 | 4 | 23815404 | intron variant | A/C;G | snv | 0.39 | 1 | ||
rs687432 | 1.000 | 0.040 | 11 | 57926788 | intergenic variant | A/C;G | snv | 0.64 | 1 | ||
rs755674394 | 1.000 | 0.040 | 3 | 113723499 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs769519959 | 1.000 | 0.040 | 19 | 14516877 | missense variant | A/C;G | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs2306604 | 0.827 | 0.080 | 10 | 58388932 | intron variant | A/C;G;T | snv | 5 | |||
rs241041 | 0.925 | 0.120 | 17 | 45636559 | non coding transcript exon variant | A/C;G;T | snv | 0.14 | 3 |